<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Prins, Bram P</style></author><author><style face="normal" font="default" size="100%">Mead, Timothy J</style></author><author><style face="normal" font="default" size="100%">Brody, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Sveinbjornsson, Gardar</style></author><author><style face="normal" font="default" size="100%">Ntalla, Ioanna</style></author><author><style face="normal" font="default" size="100%">Bihlmeyer, Nathan A</style></author><author><style face="normal" font="default" size="100%">van den Berg, Marten</style></author><author><style face="normal" font="default" size="100%">Bork-Jensen, Jette</style></author><author><style face="normal" font="default" size="100%">Cappellani, Stefania</style></author><author><style face="normal" font="default" size="100%">Van Duijvenboden, Stefan</style></author><author><style face="normal" font="default" size="100%">Klena, Nikolai T</style></author><author><style face="normal" font="default" size="100%">Gabriel, George C</style></author><author><style face="normal" font="default" size="100%">Liu, Xiaoqin</style></author><author><style face="normal" font="default" size="100%">Gulec, Cagri</style></author><author><style face="normal" font="default" size="100%">Grarup, Niels</style></author><author><style face="normal" font="default" size="100%">Haessler, Jeffrey</style></author><author><style face="normal" font="default" size="100%">Hall, Leanne M</style></author><author><style face="normal" font="default" size="100%">Iorio, Annamaria</style></author><author><style face="normal" font="default" size="100%">Isaacs, Aaron</style></author><author><style face="normal" font="default" size="100%">Li-Gao, Ruifang</style></author><author><style face="normal" font="default" size="100%">Lin, Honghuang</style></author><author><style face="normal" font="default" size="100%">Liu, Ching-Ti</style></author><author><style face="normal" font="default" size="100%">Lyytikäinen, Leo-Pekka</style></author><author><style face="normal" font="default" size="100%">Marten, Jonathan</style></author><author><style face="normal" font="default" size="100%">Mei, Hao</style></author><author><style face="normal" font="default" size="100%">Müller-Nurasyid, Martina</style></author><author><style face="normal" font="default" size="100%">Orini, Michele</style></author><author><style face="normal" font="default" size="100%">Padmanabhan, Sandosh</style></author><author><style face="normal" font="default" size="100%">Radmanesh, Farid</style></author><author><style face="normal" font="default" size="100%">Ramirez, Julia</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Schwartz, Molly</style></author><author><style face="normal" font="default" size="100%">van Setten, Jessica</style></author><author><style face="normal" font="default" size="100%">Smith, Albert V</style></author><author><style face="normal" font="default" size="100%">Verweij, Niek</style></author><author><style face="normal" font="default" size="100%">Warren, Helen R</style></author><author><style face="normal" font="default" size="100%">Weiss, Stefan</style></author><author><style face="normal" font="default" size="100%">Alonso, Alvaro</style></author><author><style face="normal" font="default" size="100%">Arnar, David O</style></author><author><style face="normal" font="default" size="100%">Bots, Michiel L</style></author><author><style face="normal" font="default" size="100%">de Boer, Rudolf A</style></author><author><style face="normal" font="default" size="100%">Dominiczak, Anna F</style></author><author><style face="normal" font="default" size="100%">Eijgelsheim, Mark</style></author><author><style face="normal" font="default" size="100%">Ellinor, Patrick T</style></author><author><style face="normal" font="default" size="100%">Guo, Xiuqing</style></author><author><style face="normal" font="default" size="100%">Felix, Stephan B</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Heckbert, Susan R</style></author><author><style face="normal" font="default" size="100%">Huang, Paul L</style></author><author><style face="normal" font="default" size="100%">Jukema, J W</style></author><author><style face="normal" font="default" size="100%">Kähönen, Mika</style></author><author><style face="normal" font="default" size="100%">Kors, Jan A</style></author><author><style face="normal" font="default" size="100%">Lambiase, Pier D</style></author><author><style face="normal" font="default" size="100%">Launer, Lenore J</style></author><author><style face="normal" font="default" size="100%">Li, Man</style></author><author><style face="normal" font="default" size="100%">Linneberg, Allan</style></author><author><style face="normal" font="default" size="100%">Nelson, Christopher P</style></author><author><style face="normal" font="default" size="100%">Pedersen, Oluf</style></author><author><style face="normal" font="default" size="100%">Perez, Marco</style></author><author><style face="normal" font="default" size="100%">Peters, Annette</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli T</style></author><author><style face="normal" font="default" size="100%">Rice, Kenneth M</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Sinner, Moritz F</style></author><author><style face="normal" font="default" size="100%">Soliman, Elsayed Z</style></author><author><style face="normal" font="default" size="100%">Spector, Tim D</style></author><author><style face="normal" font="default" size="100%">Strauch, Konstantin</style></author><author><style face="normal" font="default" size="100%">Thorsteinsdottir, Unnur</style></author><author><style face="normal" font="default" size="100%">Tinker, Andrew</style></author><author><style face="normal" font="default" size="100%">Trompet, Stella</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André</style></author><author><style face="normal" font="default" size="100%">Vaartjes, Ilonca</style></author><author><style face="normal" font="default" size="100%">van der Meer, Peter</style></author><author><style face="normal" font="default" size="100%">Völker, Uwe</style></author><author><style face="normal" font="default" size="100%">Völzke, Henry</style></author><author><style face="normal" font="default" size="100%">Waldenberger, Melanie</style></author><author><style face="normal" font="default" size="100%">Wilson, James G</style></author><author><style face="normal" font="default" size="100%">Xie, Zhijun</style></author><author><style face="normal" font="default" size="100%">Asselbergs, Folkert W</style></author><author><style face="normal" font="default" size="100%">Dörr, Marcus</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Gudbjartsson, Daniel F</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Hansen, Torben</style></author><author><style face="normal" font="default" size="100%">Kääb, Stefan</style></author><author><style face="normal" font="default" size="100%">Kanters, Jørgen K</style></author><author><style face="normal" font="default" size="100%">Kooperberg, Charles</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Lin, Henry J</style></author><author><style face="normal" font="default" size="100%">Lubitz, Steven A</style></author><author><style face="normal" font="default" size="100%">Mook-Kanamori, Dennis O</style></author><author><style face="normal" font="default" size="100%">Conti, Francesco J</style></author><author><style face="normal" font="default" size="100%">Newton-Cheh, Christopher H</style></author><author><style face="normal" font="default" size="100%">Rosand, Jonathan</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Samani, Nilesh J</style></author><author><style face="normal" font="default" size="100%">Sinagra, Gianfranco</style></author><author><style face="normal" font="default" size="100%">Smith, Blair H</style></author><author><style face="normal" font="default" size="100%">Holm, Hilma</style></author><author><style face="normal" font="default" size="100%">Stricker, Bruno H</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Sotoodehnia, Nona</style></author><author><style face="normal" font="default" size="100%">Apte, Suneel S</style></author><author><style face="normal" font="default" size="100%">van der Harst, Pim</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Munroe, Patricia B</style></author><author><style face="normal" font="default" size="100%">Arking, Dan E</style></author><author><style face="normal" font="default" size="100%">Lo, Cecilia W</style></author><author><style face="normal" font="default" size="100%">Jamshidi, Yalda</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.</style></title><secondary-title><style face="normal" font="default" size="100%">Genome Biol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Genome Biol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">ADAMTS Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">African Continental Ancestry Group</style></keyword><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Connexin 43</style></keyword><keyword><style  face="normal" font="default" size="100%">Electrocardiography</style></keyword><keyword><style  face="normal" font="default" size="100%">European Continental Ancestry Group</style></keyword><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Profiling</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Heart Conduction System</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mice</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Myocardium</style></keyword><keyword><style  face="normal" font="default" size="100%">Open Reading Frames</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Whole Exome Sequencing</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 07 17</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">19</style></volume><pages><style face="normal" font="default" size="100%">87</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;Genome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into cardiac function. However, the variants identified fall predominantly in non-coding regions and their underlying mechanisms remain unclear.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Here, we identify putative functional coding variation associated with changes in the QRS interval duration by combining Illumina HumanExome BeadChip genotype data from 77,898 participants of European ancestry and 7695 of African descent in our discovery cohort, followed by replication in 111,874 individuals of European ancestry from the UK Biobank and deCODE cohorts. We identify ten novel loci, seven within coding regions, including ADAMTS6, significantly associated with QRS duration in gene-based analyses. ADAMTS6 encodes a secreted metalloprotease of currently unknown function. In vitro validation analysis shows that the QRS-associated variants lead to impaired ADAMTS6 secretion and loss-of function analysis in mice demonstrates a previously unappreciated role for ADAMTS6 in connexin 43 gap junction expression, which is essential for myocardial conduction.&lt;/p&gt;&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;Our approach identifies novel coding and non-coding variants underlying ventricular depolarization and provides a possible mechanism for the ADAMTS6-associated conduction changes.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30012220?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Evangelou, Evangelos</style></author><author><style face="normal" 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size="100%">Witkowska, Katarzyna</style></author><author><style face="normal" font="default" size="100%">Tzanis, Evan</style></author><author><style face="normal" font="default" size="100%">Hellwege, Jacklyn N</style></author><author><style face="normal" font="default" size="100%">Giri, Ayush</style></author><author><style face="normal" font="default" size="100%">Velez Edwards, Digna R</style></author><author><style face="normal" font="default" size="100%">Sun, Yan V</style></author><author><style face="normal" font="default" size="100%">Cho, Kelly</style></author><author><style face="normal" font="default" size="100%">Gaziano, J Michael</style></author><author><style face="normal" font="default" size="100%">Wilson, Peter W F</style></author><author><style face="normal" font="default" size="100%">Tsao, Philip S</style></author><author><style face="normal" font="default" size="100%">Kovesdy, Csaba P</style></author><author><style face="normal" font="default" size="100%">Esko, 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Christopher</style></author><author><style face="normal" font="default" size="100%">Brown, Morris J</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Hung, Adriana M</style></author><author><style face="normal" font="default" size="100%">O'Donnell, Christopher J</style></author><author><style face="normal" font="default" size="100%">Edwards, Todd L</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Tzoulaki, Ioanna</style></author><author><style face="normal" font="default" size="100%">Barnes, Michael R</style></author><author><style face="normal" font="default" size="100%">Wain, Louise V</style></author><author><style face="normal" font="default" size="100%">Elliott, Paul</style></author><author><style face="normal" font="default" size="100%">Caulfield, Mark J</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Million Veteran Program</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat. Genet.</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 Oct</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">50</style></volume><pages><style face="normal" font="default" size="100%">1412-1425</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. 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size="100%">Franco, Oscar H</style></author><author><style face="normal" font="default" size="100%">Friedlander, Yechiel</style></author><author><style face="normal" font="default" size="100%">Gandin, Ilaria</style></author><author><style face="normal" font="default" size="100%">Gao, He</style></author><author><style face="normal" font="default" size="100%">Ghanbari, Mohsen</style></author><author><style face="normal" font="default" size="100%">Gigante, Bruna</style></author><author><style face="normal" font="default" size="100%">Gu, C Charles</style></author><author><style face="normal" font="default" size="100%">Gu, Dongfeng</style></author><author><style face="normal" font="default" size="100%">Hagenaars, Saskia P</style></author><author><style face="normal" font="default" size="100%">Hallmans, Goran</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">He, Jiang</style></author><author><style face="normal" font="default" size="100%">Heikkinen, Sami</style></author><author><style face="normal" font="default" size="100%">Heng, Chew-Kiat</style></author><author><style face="normal" font="default" size="100%">Hirata, Makoto</style></author><author><style face="normal" font="default" size="100%">Howard, Barbara V</style></author><author><style face="normal" font="default" size="100%">Ikram, M Arfan</style></author><author><style face="normal" font="default" size="100%">John, Ulrich</style></author><author><style face="normal" font="default" size="100%">Katsuya, Tomohiro</style></author><author><style face="normal" font="default" size="100%">Khor, Chiea Chuen</style></author><author><style face="normal" font="default" size="100%">Kilpeläinen, Tuomas O</style></author><author><style face="normal" font="default" size="100%">Koh, Woon-Puay</style></author><author><style face="normal" font="default" size="100%">Krieger, Jose 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size="100%">Poulter, Neil</style></author><author><style face="normal" font="default" size="100%">Raffel, Leslie J</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli T</style></author><author><style face="normal" font="default" size="100%">Roll, Kathryn</style></author><author><style face="normal" font="default" size="100%">Rose, Lynda M</style></author><author><style face="normal" font="default" size="100%">Rosendaal, Frits R</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Schmidt, Carsten O</style></author><author><style face="normal" font="default" size="100%">Schreiner, Pamela J</style></author><author><style face="normal" font="default" size="100%">Schupf, Nicole</style></author><author><style face="normal" font="default" size="100%">Scott, William R</style></author><author><style face="normal" font="default" size="100%">Sever, Peter S</style></author><author><style face="normal" font="default" size="100%">Shi, Yuan</style></author><author><style face="normal" font="default" size="100%">Sidney, Stephen</style></author><author><style face="normal" font="default" size="100%">Sims, Mario</style></author><author><style face="normal" font="default" size="100%">Sitlani, Colleen M</style></author><author><style face="normal" font="default" size="100%">Smith, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Snieder, Harold</style></author><author><style face="normal" font="default" size="100%">Starr, John M</style></author><author><style face="normal" font="default" size="100%">Strauch, Konstantin</style></author><author><style face="normal" font="default" size="100%">Stringham, Heather M</style></author><author><style face="normal" font="default" size="100%">Tan, Nicholas Y Q</style></author><author><style face="normal" font="default" size="100%">Tang, Hua</style></author><author><style face="normal" font="default" size="100%">Taylor, Kent D</style></author><author><style face="normal" font="default" size="100%">Teo, Yik Ying</style></author><author><style face="normal" font="default" size="100%">Tham, Yih Chung</style></author><author><style face="normal" font="default" size="100%">Turner, Stephen T</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Vollenweider, Peter</style></author><author><style face="normal" font="default" size="100%">Waldenberger, Melanie</style></author><author><style face="normal" font="default" size="100%">Wang, Lihua</style></author><author><style face="normal" font="default" size="100%">Wang, Ya Xing</style></author><author><style face="normal" font="default" size="100%">Wei, Wen Bin</style></author><author><style face="normal" font="default" size="100%">Williams, Christine</style></author><author><style face="normal" font="default" size="100%">Yao, Jie</style></author><author><style face="normal" font="default" size="100%">Yu, Caizheng</style></author><author><style face="normal" font="default" size="100%">Yuan, Jian-Min</style></author><author><style face="normal" font="default" size="100%">Zhao, Wei</style></author><author><style face="normal" font="default" size="100%">Zonderman, Alan B</style></author><author><style face="normal" font="default" size="100%">Becker, Diane M</style></author><author><style face="normal" font="default" size="100%">Boehnke, Michael</style></author><author><style face="normal" font="default" size="100%">Bowden, Donald W</style></author><author><style face="normal" font="default" size="100%">Chambers, John C</style></author><author><style face="normal" font="default" size="100%">Deary, Ian J</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Farrall, Martin</style></author><author><style face="normal" font="default" size="100%">Franks, Paul W</style></author><author><style face="normal" font="default" size="100%">Freedman, Barry I</style></author><author><style face="normal" font="default" size="100%">Froguel, Philippe</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Gieger, Christian</style></author><author><style face="normal" font="default" size="100%">Jonas, Jost Bruno</style></author><author><style face="normal" font="default" size="100%">Kamatani, Yoichiro</style></author><author><style face="normal" font="default" size="100%">Kato, Norihiro</style></author><author><style face="normal" font="default" size="100%">Kooner, Jaspal S</style></author><author><style face="normal" font="default" size="100%">Kutalik, Zoltán</style></author><author><style face="normal" font="default" size="100%">Laakso, Markku</style></author><author><style face="normal" font="default" size="100%">Laurie, Cathy C</style></author><author><style face="normal" font="default" size="100%">Leander, Karin</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Study, Lifelines Cohort</style></author><author><style face="normal" font="default" size="100%">Magnusson, Patrik K E</style></author><author><style face="normal" font="default" size="100%">Oldehinkel, Albertine J</style></author><author><style face="normal" font="default" size="100%">Penninx, Brenda W J H</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Porteous, David J</style></author><author><style face="normal" font="default" size="100%">Rauramaa, Rainer</style></author><author><style face="normal" font="default" size="100%">Samani, Nilesh J</style></author><author><style face="normal" font="default" size="100%">Scott, James</style></author><author><style face="normal" font="default" size="100%">Shu, Xiao-Ou</style></author><author><style face="normal" font="default" size="100%">van der Harst, Pim</style></author><author><style face="normal" font="default" size="100%">Wagenknecht, Lynne E</style></author><author><style face="normal" font="default" size="100%">Wareham, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Watkins, Hugh</style></author><author><style face="normal" font="default" size="100%">Weir, David R</style></author><author><style face="normal" font="default" size="100%">Wickremasinghe, Ananda R</style></author><author><style face="normal" font="default" size="100%">Wu, Tangchun</style></author><author><style face="normal" font="default" size="100%">Zheng, Wei</style></author><author><style face="normal" font="default" size="100%">Bouchard, Claude</style></author><author><style face="normal" font="default" size="100%">Christensen, Kaare</style></author><author><style face="normal" font="default" size="100%">Evans, Michele K</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Horta, Bernardo L</style></author><author><style face="normal" font="default" size="100%">Kardia, Sharon L R</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">Pereira, Alexandre C</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Ridker, Paul M</style></author><author><style face="normal" font="default" size="100%">van Dam, Rob M</style></author><author><style face="normal" font="default" size="100%">Gauderman, W James</style></author><author><style face="normal" font="default" size="100%">Zhu, Xiaofeng</style></author><author><style face="normal" font="default" size="100%">Mook-Kanamori, Dennis O</style></author><author><style face="normal" font="default" size="100%">Fornage, Myriam</style></author><author><style face="normal" font="default" size="100%">Rotimi, Charles N</style></author><author><style face="normal" font="default" size="100%">Cupples, L Adrienne</style></author><author><style face="normal" font="default" size="100%">Kelly, Tanika N</style></author><author><style face="normal" font="default" size="100%">Fox, Ervin R</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Tai, E Shyong</style></author><author><style face="normal" font="default" size="100%">Wong, Tien Yin</style></author><author><style face="normal" font="default" size="100%">Kooperberg, Charles</style></author><author><style face="normal" font="default" size="100%">Palmas, Walter</style></author><author><style face="normal" font="default" size="100%">Rice, Kenneth</style></author><author><style face="normal" font="default" size="100%">Morrison, Alanna C</style></author><author><style face="normal" font="default" size="100%">Elliott, Paul</style></author><author><style face="normal" font="default" size="100%">Caulfield, Mark J</style></author><author><style face="normal" font="default" size="100%">Munroe, Patricia B</style></author><author><style face="normal" font="default" size="100%">Rao, Dabeeru C</style></author><author><style face="normal" font="default" size="100%">Province, Michael A</style></author><author><style face="normal" font="default" size="100%">Levy, Daniel</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">InterAct Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.</style></title><secondary-title><style face="normal" font="default" size="100%">PLoS One</style></secondary-title><alt-title><style face="normal" font="default" size="100%">PLoS ONE</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged, 80 and over</style></keyword><keyword><style  face="normal" font="default" size="100%">Alcohol Drinking</style></keyword><keyword><style  face="normal" font="default" size="100%">Blood Pressure</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Continental Population Groups</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene-Environment Interaction</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Hypertension</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Pedigree</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">13</style></volume><pages><style face="normal" font="default" size="100%">e0198166</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for gene-alcohol consumption interaction for BP might identify additional BP loci and contribute to the understanding of alcohol-related BP regulation. We conducted a large two-stage investigation incorporating joint testing of main genetic effects and single nucleotide variant (SNV)-alcohol consumption interactions. In Stage 1, genome-wide discovery meta-analyses in ≈131K individuals across several ancestry groups yielded 3,514 SNVs (245 loci) with suggestive evidence of association (P &lt; 1.0 x 10-5). In Stage 2, these SNVs were tested for independent external replication in ≈440K individuals across multiple ancestries. We identified and replicated (at Bonferroni correction threshold) five novel BP loci (380 SNVs in 21 genes) and 49 previously reported BP loci (2,159 SNVs in 109 genes) in European ancestry, and in multi-ancestry meta-analyses (P &lt; 5.0 x 10-8). For African ancestry samples, we detected 18 potentially novel BP loci (P &lt; 5.0 x 10-8) in Stage 1 that warrant further replication. Additionally, correlated meta-analysis identified eight novel BP loci (11 genes). Several genes in these loci (e.g., PINX1, GATA4, BLK, FTO and GABBR2) have been previously reported to be associated with alcohol consumption. These findings provide insights into the role of alcohol consumption in the genetic architecture of hypertension.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29912962?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">van Setten, Jessica</style></author><author><style face="normal" font="default" size="100%">Brody, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Jamshidi, Yalda</style></author><author><style face="normal" font="default" size="100%">Swenson, Brenton R</style></author><author><style face="normal" font="default" size="100%">Butler, Anne M</style></author><author><style face="normal" font="default" size="100%">Campbell, Harry</style></author><author><style face="normal" font="default" size="100%">Del Greco, Fabiola M</style></author><author><style face="normal" font="default" size="100%">Evans, Daniel S</style></author><author><style face="normal" font="default" size="100%">Gibson, Quince</style></author><author><style face="normal" font="default" size="100%">Gudbjartsson, Daniel F</style></author><author><style face="normal" font="default" size="100%">Kerr, Kathleen F</style></author><author><style face="normal" font="default" size="100%">Krijthe, Bouwe P</style></author><author><style face="normal" font="default" size="100%">Lyytikäinen, Leo-Pekka</style></author><author><style face="normal" font="default" size="100%">Müller, Christian</style></author><author><style face="normal" font="default" size="100%">Müller-Nurasyid, Martina</style></author><author><style face="normal" font="default" size="100%">Nolte, Ilja M</style></author><author><style face="normal" font="default" size="100%">Padmanabhan, Sandosh</style></author><author><style face="normal" font="default" size="100%">Ritchie, Marylyn D</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Smith, Albert V</style></author><author><style face="normal" font="default" size="100%">Steri, Maristella</style></author><author><style face="normal" font="default" size="100%">Tanaka, Toshiko</style></author><author><style face="normal" font="default" size="100%">Teumer, Alexander</style></author><author><style face="normal" font="default" size="100%">Trompet, Stella</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Verweij, Niek</style></author><author><style face="normal" font="default" size="100%">Yin, Xiaoyan</style></author><author><style face="normal" font="default" size="100%">Arnar, David O</style></author><author><style face="normal" font="default" size="100%">Asselbergs, Folkert W</style></author><author><style face="normal" font="default" size="100%">Bader, Joel S</style></author><author><style face="normal" font="default" size="100%">Barnard, John</style></author><author><style face="normal" font="default" size="100%">Bis, Josh</style></author><author><style face="normal" font="default" size="100%">Blankenberg, Stefan</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Bradford, Yuki</style></author><author><style face="normal" font="default" size="100%">Buckley, Brendan M</style></author><author><style face="normal" font="default" size="100%">Chung, Mina K</style></author><author><style face="normal" font="default" size="100%">Crawford, Dana</style></author><author><style face="normal" font="default" size="100%">den Hoed, Marcel</style></author><author><style face="normal" font="default" size="100%">Denny, Josh C</style></author><author><style face="normal" font="default" size="100%">Dominiczak, Anna F</style></author><author><style face="normal" font="default" size="100%">Ehret, Georg B</style></author><author><style face="normal" font="default" size="100%">Eijgelsheim, Mark</style></author><author><style face="normal" font="default" size="100%">Ellinor, Patrick T</style></author><author><style face="normal" font="default" size="100%">Felix, Stephan B</style></author><author><style face="normal" font="default" size="100%">Franco, Oscar H</style></author><author><style face="normal" font="default" size="100%">Franke, Lude</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Holm, Hilma</style></author><author><style face="normal" font="default" size="100%">Ilaria, Gandin</style></author><author><style face="normal" font="default" size="100%">Iorio, Annamaria</style></author><author><style face="normal" font="default" size="100%">Kähönen, Mika</style></author><author><style face="normal" font="default" size="100%">Kolcic, Ivana</style></author><author><style face="normal" font="default" size="100%">Kors, Jan A</style></author><author><style face="normal" font="default" size="100%">Lakatta, Edward G</style></author><author><style face="normal" font="default" size="100%">Launer, Lenore J</style></author><author><style face="normal" font="default" size="100%">Lin, Honghuang</style></author><author><style face="normal" font="default" size="100%">Lin, Henry J</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Lubitz, Steven A</style></author><author><style face="normal" font="default" size="100%">Macfarlane, Peter W</style></author><author><style face="normal" font="default" size="100%">Magnani, Jared W</style></author><author><style face="normal" font="default" size="100%">Leach, Irene Mateo</style></author><author><style face="normal" font="default" size="100%">Meitinger, Thomas</style></author><author><style face="normal" font="default" size="100%">Mitchell, Braxton D</style></author><author><style face="normal" font="default" size="100%">Munzel, Thomas</style></author><author><style face="normal" font="default" size="100%">Papanicolaou, George J</style></author><author><style face="normal" font="default" size="100%">Peters, Annette</style></author><author><style face="normal" font="default" size="100%">Pfeufer, Arne</style></author><author><style face="normal" font="default" size="100%">Pramstaller, Peter P</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli T</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Samani, Nilesh J</style></author><author><style face="normal" font="default" size="100%">Schlessinger, David</style></author><author><style face="normal" font="default" size="100%">Silva Aldana, Claudia T</style></author><author><style face="normal" font="default" size="100%">Sinner, Moritz F</style></author><author><style face="normal" font="default" size="100%">Smith, Jonathan D</style></author><author><style face="normal" font="default" size="100%">Snieder, Harold</style></author><author><style face="normal" font="default" size="100%">Soliman, Elsayed Z</style></author><author><style face="normal" font="default" size="100%">Spector, Timothy D</style></author><author><style face="normal" font="default" size="100%">Stott, David J</style></author><author><style face="normal" font="default" size="100%">Strauch, Konstantin</style></author><author><style face="normal" font="default" size="100%">Tarasov, Kirill V</style></author><author><style face="normal" font="default" size="100%">Thorsteinsdottir, Unnur</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Van Wagoner, David R</style></author><author><style face="normal" font="default" size="100%">Völker, Uwe</style></author><author><style face="normal" font="default" size="100%">Völzke, Henry</style></author><author><style face="normal" font="default" size="100%">Waldenberger, Melanie</style></author><author><style face="normal" font="default" size="100%">Jan Westra, Harm</style></author><author><style face="normal" font="default" size="100%">Wild, Philipp S</style></author><author><style face="normal" font="default" size="100%">Zeller, Tanja</style></author><author><style face="normal" font="default" size="100%">Alonso, Alvaro</style></author><author><style face="normal" font="default" size="100%">Avery, Christy L</style></author><author><style face="normal" font="default" size="100%">Bandinelli, Stefania</style></author><author><style face="normal" font="default" size="100%">Benjamin, Emelia J</style></author><author><style face="normal" font="default" size="100%">Cucca, Francesco</style></author><author><style face="normal" font="default" size="100%">Dörr, Marcus</style></author><author><style face="normal" font="default" size="100%">Ferrucci, Luigi</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Heckbert, Susan R</style></author><author><style face="normal" font="default" size="100%">Hicks, Andrew A</style></author><author><style face="normal" font="default" size="100%">Jukema, J Wouter</style></author><author><style face="normal" font="default" size="100%">Kääb, Stefan</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">Munroe, Patricia B</style></author><author><style face="normal" font="default" size="100%">Parsa, Afshin</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Roden, Dan M</style></author><author><style face="normal" font="default" size="100%">Schnabel, Renate B</style></author><author><style face="normal" font="default" size="100%">Sinagra, Gianfranco</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Stricker, Bruno H</style></author><author><style face="normal" font="default" size="100%">van der Harst, Pim</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Wilson, James F</style></author><author><style face="normal" font="default" size="100%">Gharib, Sina A</style></author><author><style face="normal" font="default" size="100%">de Bakker, Paul I W</style></author><author><style face="normal" font="default" size="100%">Isaacs, Aaron</style></author><author><style face="normal" font="default" size="100%">Arking, Dan E</style></author><author><style face="normal" font="default" size="100%">Sotoodehnia, Nona</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Commun</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat Commun</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Atrial Function</style></keyword><keyword><style  face="normal" font="default" size="100%">Atrioventricular Node</style></keyword><keyword><style  face="normal" font="default" size="100%">Electrocardiography</style></keyword><keyword><style  face="normal" font="default" size="100%">Electrophysiological Phenomena</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Linkage Disequilibrium</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation, Missense</style></keyword><keyword><style  face="normal" font="default" size="100%">Risk Factors</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 07 25</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">9</style></volume><pages><style face="normal" font="default" size="100%">2904</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 European-descent individuals identifies 44 PR interval loci (34 novel). Examination of these loci reveals known and previously not-yet-reported biological processes involved in cardiac atrial electrical activity. Genes in these loci are over-represented in cardiac disease processes including heart block and atrial fibrillation. Variants in over half of the 44 loci were associated with atrial or blood transcript expression levels, or were in high linkage disequilibrium with missense variants. Six additional loci were identified either by meta-analysis of ~105,000 African and European-descent individuals and/or by pleiotropic analyses combining PR interval with heart rate, QRS interval, and atrial fibrillation. These findings implicate developmental pathways, and identify transcription factors, ion-channel genes, and cell-junction/cell-signaling proteins in atrio-ventricular conduction, identifying potential targets for drug development.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">1</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30046033?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Li, Man</style></author><author><style face="normal" font="default" size="100%">Li, Yong</style></author><author><style face="normal" font="default" size="100%">Weeks, Olivia</style></author><author><style face="normal" font="default" size="100%">Mijatovic, Vladan</style></author><author><style face="normal" font="default" size="100%">Teumer, Alexander</style></author><author><style face="normal" font="default" size="100%">Huffman, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Tromp, Gerard</style></author><author><style face="normal" font="default" size="100%">Fuchsberger, Christian</style></author><author><style face="normal" font="default" size="100%">Gorski, Mathias</style></author><author><style face="normal" font="default" size="100%">Lyytikäinen, Leo-Pekka</style></author><author><style face="normal" font="default" size="100%">Nutile, Teresa</style></author><author><style face="normal" font="default" size="100%">Sedaghat, Sanaz</style></author><author><style face="normal" font="default" size="100%">Sorice, Rossella</style></author><author><style face="normal" font="default" size="100%">Tin, Adrienne</style></author><author><style face="normal" font="default" size="100%">Yang, Qiong</style></author><author><style face="normal" font="default" size="100%">Ahluwalia, Tarunveer S</style></author><author><style face="normal" font="default" size="100%">Arking, Dan E</style></author><author><style face="normal" font="default" size="100%">Bihlmeyer, Nathan A</style></author><author><style face="normal" font="default" size="100%">Böger, Carsten A</style></author><author><style face="normal" font="default" size="100%">Carroll, Robert J</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">Cornelis, Marilyn C</style></author><author><style face="normal" font="default" size="100%">Dehghan, Abbas</style></author><author><style face="normal" font="default" size="100%">Faul, Jessica D</style></author><author><style face="normal" font="default" size="100%">Feitosa, Mary F</style></author><author><style face="normal" font="default" size="100%">Gambaro, Giovanni</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Giulianini, Franco</style></author><author><style face="normal" font="default" size="100%">Heid, Iris</style></author><author><style face="normal" font="default" size="100%">Huang, Jinyan</style></author><author><style face="normal" font="default" size="100%">Imboden, Medea</style></author><author><style face="normal" font="default" size="100%">Jackson, Anne U</style></author><author><style face="normal" font="default" size="100%">Jeff, Janina</style></author><author><style face="normal" font="default" size="100%">Jhun, Min A</style></author><author><style face="normal" font="default" size="100%">Katz, Ronit</style></author><author><style face="normal" font="default" size="100%">Kifley, Annette</style></author><author><style face="normal" font="default" size="100%">Kilpeläinen, Tuomas O</style></author><author><style face="normal" font="default" size="100%">Kumar, Ashish</style></author><author><style face="normal" font="default" size="100%">Laakso, Markku</style></author><author><style face="normal" font="default" size="100%">Li-Gao, Ruifang</style></author><author><style face="normal" font="default" size="100%">Lohman, Kurt</style></author><author><style face="normal" font="default" size="100%">Lu, Yingchang</style></author><author><style face="normal" font="default" size="100%">Mägi, Reedik</style></author><author><style face="normal" font="default" size="100%">Malerba, Giovanni</style></author><author><style face="normal" font="default" size="100%">Mihailov, Evelin</style></author><author><style face="normal" font="default" size="100%">Mohlke, Karen L</style></author><author><style face="normal" font="default" size="100%">Mook-Kanamori, Dennis O</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Ruderfer, Douglas</style></author><author><style face="normal" font="default" size="100%">Salvi, Erika</style></author><author><style face="normal" font="default" size="100%">Schick, Ursula M</style></author><author><style face="normal" font="default" size="100%">Schulz, Christina-Alexandra</style></author><author><style face="normal" font="default" size="100%">Smith, Albert V</style></author><author><style face="normal" font="default" size="100%">Smith, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Yerges-Armstrong, Laura M</style></author><author><style face="normal" font="default" size="100%">Zhao, Wei</style></author><author><style face="normal" font="default" size="100%">Goodarzi, Mark O</style></author><author><style face="normal" font="default" size="100%">Kraja, Aldi T</style></author><author><style face="normal" font="default" size="100%">Liu, Chunyu</style></author><author><style face="normal" font="default" size="100%">Wessel, Jennifer</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Borecki, Ingrid B</style></author><author><style face="normal" font="default" size="100%">Bork-Jensen, Jette</style></author><author><style face="normal" font="default" size="100%">Bottinger, Erwin P</style></author><author><style face="normal" font="default" size="100%">Braga, Daniele</style></author><author><style face="normal" font="default" size="100%">Brandslund, Ivan</style></author><author><style face="normal" font="default" size="100%">Brody, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Campbell, Archie</style></author><author><style face="normal" font="default" size="100%">Carey, David J</style></author><author><style face="normal" font="default" size="100%">Christensen, Cramer</style></author><author><style face="normal" font="default" size="100%">Coresh, Josef</style></author><author><style face="normal" font="default" size="100%">Crook, Errol</style></author><author><style face="normal" font="default" size="100%">Curhan, Gary C</style></author><author><style face="normal" font="default" size="100%">Cusi, Daniele</style></author><author><style face="normal" font="default" size="100%">de Boer, Ian H</style></author><author><style face="normal" font="default" size="100%">de Vries, Aiko P J</style></author><author><style face="normal" font="default" size="100%">Denny, Joshua C</style></author><author><style face="normal" font="default" size="100%">Devuyst, Olivier</style></author><author><style face="normal" font="default" size="100%">Dreisbach, Albert W</style></author><author><style face="normal" font="default" size="100%">Endlich, Karlhans</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Franco, Oscar 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J</style></author><author><style face="normal" font="default" size="100%">Lauritzen, Torsten</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Levy, Daniel</style></author><author><style face="normal" font="default" size="100%">Linksted, Pamela</style></author><author><style face="normal" font="default" size="100%">Linneberg, Allan</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Lupo, Antonio</style></author><author><style face="normal" font="default" size="100%">Meisinger, Christine</style></author><author><style face="normal" font="default" size="100%">Melander, Olle</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Mitchell, Paul</style></author><author><style face="normal" font="default" size="100%">Nauck, Matthias</style></author><author><style face="normal" font="default" size="100%">Nürnberg, Peter</style></author><author><style face="normal" font="default" size="100%">Orho-Melander, Marju</style></author><author><style face="normal" font="default" size="100%">Parsa, Afshin</style></author><author><style face="normal" font="default" size="100%">Pedersen, Oluf</style></author><author><style face="normal" font="default" size="100%">Peters, Annette</style></author><author><style face="normal" font="default" size="100%">Peters, Ulrike</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Porteous, David</style></author><author><style face="normal" font="default" size="100%">Probst-Hensch, Nicole 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face="normal" font="default" size="100%">Strauch, Konstantin</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Turner, Stephen T</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Velayutham, Dinesh</style></author><author><style face="normal" font="default" size="100%">Völker, Uwe</style></author><author><style face="normal" font="default" size="100%">Völzke, Henry</style></author><author><style face="normal" font="default" size="100%">Waldenberger, Melanie</style></author><author><style face="normal" font="default" size="100%">Wang, Jie Jin</style></author><author><style face="normal" font="default" size="100%">Weir, David R</style></author><author><style face="normal" font="default" size="100%">Witte, Daniel</style></author><author><style face="normal" font="default" size="100%">Kuivaniemi, Helena</style></author><author><style face="normal" font="default" size="100%">Fox, Caroline S</style></author><author><style face="normal" font="default" size="100%">Franceschini, Nora</style></author><author><style face="normal" font="default" size="100%">Goessling, Wolfram</style></author><author><style face="normal" font="default" size="100%">Köttgen, Anna</style></author><author><style face="normal" font="default" size="100%">Chu, Audrey Y</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">CHARGE Glycemic-T2D Working Group,</style></author><author><style face="normal" font="default" size="100%">CHARGE Blood Pressure Working Group,</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%"> and  Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.</style></title><secondary-title><style face="normal" font="default" size="100%">J Am Soc Nephrol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Am. Soc. Nephrol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Glomerular Filtration Rate</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Kidney</style></keyword><keyword><style  face="normal" font="default" size="100%">Protein Tyrosine Phosphatases</style></keyword><keyword><style  face="normal" font="default" size="100%">Proto-Oncogene Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Son of Sevenless Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Zebrafish</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Mar</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">28</style></volume><pages><style face="normal" font="default" size="100%">981-994</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Genome-wide association studies have identified &gt;50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (: 111,666; : 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (, , and ; &lt;3.7×10), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene,  (=5.4×10 by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of  and -knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">3</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/27920155?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Wain, Louise V</style></author><author><style face="normal" font="default" size="100%">Vaez, Ahmad</style></author><author><style face="normal" font="default" size="100%">Jansen, Rick</style></author><author><style face="normal" font="default" size="100%">Joehanes, Roby</style></author><author><style face="normal" font="default" size="100%">van der Most, Peter J</style></author><author><style face="normal" font="default" size="100%">Erzurumluoglu, A Mesut</style></author><author><style face="normal" font="default" size="100%">O'Reilly, Paul F</style></author><author><style face="normal" font="default" size="100%">Cabrera, Claudia P</style></author><author><style face="normal" font="default" size="100%">Warren, Helen R</style></author><author><style face="normal" font="default" size="100%">Rose, Lynda M</style></author><author><style face="normal" font="default" size="100%">Verwoert, Germaine C</style></author><author><style face="normal" font="default" size="100%">Hottenga, Jouke-Jan</style></author><author><style face="normal" font="default" size="100%">Strawbridge, Rona J</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Arking, Dan E</style></author><author><style face="normal" font="default" size="100%">Hwang, Shih-Jen</style></author><author><style face="normal" font="default" size="100%">Guo, Xiuqing</style></author><author><style face="normal" font="default" size="100%">Kutalik, Zoltán</style></author><author><style face="normal" font="default" size="100%">Trompet, Stella</style></author><author><style face="normal" font="default" size="100%">Shrine, Nick</style></author><author><style face="normal" font="default" size="100%">Teumer, Alexander</style></author><author><style face="normal" font="default" size="100%">Ried, Janina S</style></author><author><style face="normal" font="default" size="100%">Bis, Joshua C</style></author><author><style face="normal" font="default" size="100%">Smith, Albert V</style></author><author><style face="normal" font="default" size="100%">Amin, Najaf</style></author><author><style face="normal" font="default" size="100%">Nolte, Ilja M</style></author><author><style face="normal" font="default" size="100%">Lyytikäinen, Leo-Pekka</style></author><author><style face="normal" font="default" size="100%">Mahajan, Anubha</style></author><author><style face="normal" font="default" size="100%">Wareham, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Hofer, Edith</style></author><author><style face="normal" font="default" size="100%">Joshi, Peter K</style></author><author><style face="normal" font="default" size="100%">Kristiansson, Kati</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Havulinna, Aki S</style></author><author><style face="normal" font="default" size="100%">Goel, Anuj</style></author><author><style face="normal" font="default" size="100%">Nalls, Mike A</style></author><author><style face="normal" font="default" size="100%">Sõber, Siim</style></author><author><style face="normal" font="default" size="100%">Vuckovic, Dragana</style></author><author><style face="normal" font="default" size="100%">Luan, Jian'an</style></author><author><style face="normal" font="default" size="100%">del Greco M, Fabiola</style></author><author><style face="normal" font="default" size="100%">Ayers, Kristin L</style></author><author><style face="normal" font="default" size="100%">Marrugat, Jaume</style></author><author><style face="normal" font="default" size="100%">Ruggiero, Daniela</style></author><author><style face="normal" font="default" size="100%">Lopez, Lorna M</style></author><author><style face="normal" font="default" size="100%">Niiranen, Teemu</style></author><author><style face="normal" font="default" size="100%">Enroth, Stefan</style></author><author><style face="normal" font="default" size="100%">Jackson, Anne U</style></author><author><style face="normal" font="default" size="100%">Nelson, Christopher P</style></author><author><style face="normal" font="default" size="100%">Huffman, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Zhang, Weihua</style></author><author><style face="normal" font="default" size="100%">Marten, Jonathan</style></author><author><style face="normal" font="default" size="100%">Gandin, Ilaria</style></author><author><style face="normal" font="default" size="100%">Harris, Sarah E</style></author><author><style face="normal" font="default" size="100%">Zemunik, Tatijana</style></author><author><style face="normal" font="default" size="100%">Lu, Yingchang</style></author><author><style face="normal" font="default" size="100%">Evangelou, Evangelos</style></author><author><style face="normal" font="default" size="100%">Shah, Nabi</style></author><author><style face="normal" font="default" size="100%">de Borst, Martin H</style></author><author><style face="normal" font="default" size="100%">Mangino, Massimo</style></author><author><style face="normal" font="default" size="100%">Prins, Bram P</style></author><author><style face="normal" font="default" size="100%">Campbell, Archie</style></author><author><style face="normal" font="default" size="100%">Li-Gao, Ruifang</style></author><author><style face="normal" font="default" size="100%">Chauhan, Ganesh</style></author><author><style face="normal" font="default" size="100%">Oldmeadow, Christopher</style></author><author><style face="normal" font="default" size="100%">Abecasis, Goncalo</style></author><author><style face="normal" font="default" size="100%">Abedi, Maryam</style></author><author><style face="normal" font="default" size="100%">Barbieri, Caterina M</style></author><author><style face="normal" font="default" size="100%">Barnes, Michael R</style></author><author><style face="normal" font="default" size="100%">Batini, Chiara</style></author><author><style face="normal" font="default" size="100%">Beilby, John</style></author><author><style face="normal" font="default" size="100%">Blake, Tineka</style></author><author><style face="normal" font="default" size="100%">Boehnke, Michael</style></author><author><style face="normal" font="default" size="100%">Bottinger, Erwin P</style></author><author><style face="normal" font="default" size="100%">Braund, Peter S</style></author><author><style face="normal" font="default" size="100%">Brown, Morris</style></author><author><style face="normal" font="default" size="100%">Brumat, Marco</style></author><author><style face="normal" font="default" size="100%">Campbell, Harry</style></author><author><style face="normal" font="default" size="100%">Chambers, John C</style></author><author><style face="normal" font="default" size="100%">Cocca, Massimiliano</style></author><author><style face="normal" font="default" size="100%">Collins, Francis</style></author><author><style face="normal" font="default" size="100%">Connell, John</style></author><author><style face="normal" font="default" size="100%">Cordell, Heather J</style></author><author><style face="normal" font="default" size="100%">Damman, Jeffrey J</style></author><author><style face="normal" font="default" size="100%">Davies, Gail</style></author><author><style face="normal" font="default" size="100%">de Geus, Eco J</style></author><author><style face="normal" font="default" size="100%">de Mutsert, Renée</style></author><author><style face="normal" font="default" size="100%">Deelen, Joris</style></author><author><style face="normal" font="default" size="100%">Demirkale, Yusuf</style></author><author><style face="normal" font="default" size="100%">Doney, Alex S F</style></author><author><style face="normal" font="default" size="100%">Dörr, Marcus</style></author><author><style face="normal" font="default" size="100%">Farrall, Martin</style></author><author><style face="normal" font="default" size="100%">Ferreira, Teresa</style></author><author><style face="normal" font="default" size="100%">Frånberg, Mattias</style></author><author><style face="normal" font="default" size="100%">Gao, He</style></author><author><style face="normal" font="default" size="100%">Giedraitis, Vilmantas</style></author><author><style face="normal" font="default" size="100%">Gieger, Christian</style></author><author><style face="normal" font="default" size="100%">Giulianini, Franco</style></author><author><style face="normal" font="default" size="100%">Gow, Alan J</style></author><author><style face="normal" font="default" size="100%">Hamsten, Anders</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Holliday, Elizabeth G</style></author><author><style face="normal" font="default" size="100%">Hui, Jennie</style></author><author><style face="normal" font="default" size="100%">Järvelin, Marjo-Riitta</style></author><author><style face="normal" font="default" size="100%">Johansson, Åsa</style></author><author><style face="normal" font="default" size="100%">Johnson, Andrew D</style></author><author><style face="normal" font="default" size="100%">Jousilahti, Pekka</style></author><author><style face="normal" font="default" size="100%">Jula, Antti</style></author><author><style face="normal" font="default" size="100%">Kähönen, Mika</style></author><author><style face="normal" font="default" size="100%">Kathiresan, Sekar</style></author><author><style face="normal" font="default" size="100%">Khaw, Kay-Tee</style></author><author><style face="normal" font="default" size="100%">Kolcic, Ivana</style></author><author><style face="normal" font="default" size="100%">Koskinen, Seppo</style></author><author><style face="normal" font="default" size="100%">Langenberg, Claudia</style></author><author><style face="normal" font="default" size="100%">Larson, Marty</style></author><author><style face="normal" font="default" size="100%">Launer, Lenore J</style></author><author><style face="normal" font="default" size="100%">Lehne, Benjamin</style></author><author><style face="normal" font="default" size="100%">Liewald, David C M</style></author><author><style face="normal" font="default" size="100%">Lin, Li</style></author><author><style face="normal" font="default" size="100%">Lind, Lars</style></author><author><style face="normal" font="default" size="100%">Mach, François</style></author><author><style face="normal" font="default" size="100%">Mamasoula, Chrysovalanto</style></author><author><style face="normal" font="default" size="100%">Menni, Cristina</style></author><author><style face="normal" font="default" size="100%">Mifsud, Borbala</style></author><author><style face="normal" font="default" size="100%">Milaneschi, Yuri</style></author><author><style face="normal" font="default" size="100%">Morgan, Anna</style></author><author><style face="normal" font="default" size="100%">Morris, Andrew D</style></author><author><style face="normal" font="default" size="100%">Morrison, Alanna C</style></author><author><style face="normal" font="default" size="100%">Munson, Peter J</style></author><author><style face="normal" font="default" size="100%">Nandakumar, Priyanka</style></author><author><style face="normal" font="default" size="100%">Nguyen, Quang Tri</style></author><author><style face="normal" font="default" size="100%">Nutile, Teresa</style></author><author><style face="normal" font="default" size="100%">Oldehinkel, Albertine J</style></author><author><style face="normal" font="default" size="100%">Oostra, Ben A</style></author><author><style face="normal" font="default" size="100%">Org, Elin</style></author><author><style face="normal" font="default" size="100%">Padmanabhan, Sandosh</style></author><author><style face="normal" font="default" size="100%">Palotie, Aarno</style></author><author><style face="normal" font="default" size="100%">Paré, Guillaume</style></author><author><style face="normal" font="default" size="100%">Pattie, Alison</style></author><author><style face="normal" font="default" size="100%">Penninx, Brenda W J H</style></author><author><style face="normal" font="default" size="100%">Poulter, Neil</style></author><author><style face="normal" font="default" size="100%">Pramstaller, Peter P</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli T</style></author><author><style face="normal" font="default" size="100%">Ren, Meixia</style></author><author><style face="normal" font="default" size="100%">Rice, Kenneth</style></author><author><style face="normal" font="default" size="100%">Ridker, Paul M</style></author><author><style face="normal" font="default" size="100%">Riese, Harriëtte</style></author><author><style face="normal" font="default" size="100%">Ripatti, Samuli</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Saba, Yasaman</style></author><author><style face="normal" font="default" size="100%">Saint Pierre, Aude</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia F</style></author><author><style face="normal" font="default" size="100%">Sarin, Antti-Pekka</style></author><author><style face="normal" font="default" size="100%">Schmidt, Reinhold</style></author><author><style face="normal" font="default" size="100%">Scott, Rodney</style></author><author><style face="normal" font="default" size="100%">Seelen, Marc A</style></author><author><style face="normal" font="default" size="100%">Shields, Denis C</style></author><author><style face="normal" font="default" size="100%">Siscovick, David</style></author><author><style face="normal" font="default" size="100%">Sorice, Rossella</style></author><author><style face="normal" font="default" size="100%">Stanton, Alice</style></author><author><style face="normal" font="default" size="100%">Stott, David J</style></author><author><style face="normal" font="default" size="100%">Sundström, Johan</style></author><author><style face="normal" font="default" size="100%">Swertz, Morris</style></author><author><style face="normal" font="default" size="100%">Taylor, Kent D</style></author><author><style face="normal" font="default" size="100%">Thom, Simon</style></author><author><style face="normal" font="default" size="100%">Tzoulaki, Ioanna</style></author><author><style face="normal" font="default" size="100%">Tzourio, Christophe</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Völker, Uwe</style></author><author><style face="normal" font="default" size="100%">Vollenweider, Peter</style></author><author><style face="normal" font="default" size="100%">Wild, Sarah</style></author><author><style face="normal" font="default" size="100%">Willemsen, Gonneke</style></author><author><style face="normal" font="default" size="100%">Wright, Alan F</style></author><author><style face="normal" font="default" size="100%">Yao, Jie</style></author><author><style face="normal" font="default" size="100%">Thériault, Sébastien</style></author><author><style face="normal" font="default" size="100%">Conen, David</style></author><author><style face="normal" font="default" size="100%">Attia, John</style></author><author><style face="normal" font="default" size="100%">Sever, Peter</style></author><author><style face="normal" font="default" size="100%">Debette, Stéphanie</style></author><author><style face="normal" font="default" size="100%">Mook-Kanamori, Dennis O</style></author><author><style face="normal" font="default" size="100%">Zeggini, Eleftheria</style></author><author><style face="normal" font="default" size="100%">Spector, Tim D</style></author><author><style face="normal" font="default" size="100%">van der Harst, Pim</style></author><author><style face="normal" font="default" size="100%">Palmer, Colin N A</style></author><author><style face="normal" font="default" size="100%">Vergnaud, Anne-Claire</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Starr, John M</style></author><author><style face="normal" font="default" size="100%">Girotto, Giorgia</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Kooner, Jaspal S</style></author><author><style face="normal" font="default" size="100%">Lindgren, Cecila M</style></author><author><style face="normal" font="default" size="100%">Vitart, Veronique</style></author><author><style face="normal" font="default" size="100%">Samani, Nilesh J</style></author><author><style face="normal" font="default" size="100%">Tuomilehto, Jaakko</style></author><author><style face="normal" font="default" size="100%">Gyllensten, Ulf</style></author><author><style face="normal" font="default" size="100%">Knekt, Paul</style></author><author><style face="normal" font="default" size="100%">Deary, Ian J</style></author><author><style face="normal" font="default" size="100%">Ciullo, Marina</style></author><author><style face="normal" font="default" size="100%">Elosua, Roberto</style></author><author><style face="normal" font="default" size="100%">Keavney, Bernard D</style></author><author><style face="normal" font="default" size="100%">Hicks, Andrew A</style></author><author><style face="normal" font="default" size="100%">Scott, Robert A</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Laan, Maris</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">Watkins, Hugh</style></author><author><style face="normal" font="default" size="100%">Hartman, Catharina A</style></author><author><style face="normal" font="default" size="100%">Salomaa, Veikko</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Perola, Markus</style></author><author><style face="normal" font="default" size="100%">Wilson, James F</style></author><author><style face="normal" font="default" size="100%">Schmidt, Helena</style></author><author><style face="normal" font="default" size="100%">Zhao, Jing Hua</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Peters, Annette</style></author><author><style face="normal" font="default" size="100%">Rettig, Rainer</style></author><author><style face="normal" font="default" size="100%">James, Alan</style></author><author><style face="normal" font="default" size="100%">Jukema, J Wouter</style></author><author><style face="normal" font="default" size="100%">Strachan, David P</style></author><author><style face="normal" font="default" size="100%">Palmas, Walter</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Ingelsson, Erik</style></author><author><style face="normal" font="default" size="100%">Boomsma, Dorret I</style></author><author><style face="normal" font="default" size="100%">Franco, Oscar H</style></author><author><style face="normal" font="default" size="100%">Bochud, Murielle</style></author><author><style face="normal" font="default" size="100%">Newton-Cheh, Christopher</style></author><author><style face="normal" font="default" size="100%">Munroe, Patricia B</style></author><author><style face="normal" font="default" size="100%">Elliott, Paul</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">Chakravarti, Aravinda</style></author><author><style face="normal" font="default" size="100%">Knight, Joanne</style></author><author><style face="normal" font="default" size="100%">Morris, Andrew P</style></author><author><style face="normal" font="default" size="100%">Levy, Daniel</style></author><author><style face="normal" font="default" size="100%">Tobin, Martin D</style></author><author><style face="normal" font="default" size="100%">Snieder, Harold</style></author><author><style face="normal" font="default" size="100%">Caulfield, Mark J</style></author><author><style face="normal" font="default" size="100%">Ehret, Georg B</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.</style></title><secondary-title><style face="normal" font="default" size="100%">Hypertension</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Hypertension</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Jul 24</style></date></pub-dates></dates><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure loci, we used 1000 Genomes Project-based imputation in 150 134 European ancestry individuals and sought significant evidence for independent replication in a further 228 245 individuals. We report 6 new signals of association in or near , , , , , and , and provide new replication evidence for a further 2 signals in  and  Combining large whole-blood gene expression resources totaling 12 607 individuals, we investigated all novel and previously reported signals and identified 48 genes with evidence for involvement in blood pressure regulation that are significant in multiple resources. Three novel kidney-specific signals were also detected. These robustly implicated genes may provide new leads for therapeutic innovation.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/28739976?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Arking, Dan E</style></author><author><style face="normal" font="default" size="100%">Pulit, Sara L</style></author><author><style face="normal" font="default" size="100%">Crotti, Lia</style></author><author><style face="normal" font="default" size="100%">van der Harst, Pim</style></author><author><style face="normal" font="default" size="100%">Munroe, Patricia B</style></author><author><style face="normal" font="default" size="100%">Koopmann, Tamara T</style></author><author><style face="normal" font="default" size="100%">Sotoodehnia, Nona</style></author><author><style face="normal" font="default" size="100%">Rossin, Elizabeth J</style></author><author><style face="normal" font="default" size="100%">Morley, Michael</style></author><author><style face="normal" font="default" size="100%">Wang, Xinchen</style></author><author><style face="normal" font="default" size="100%">Johnson, Andrew D</style></author><author><style face="normal" font="default" size="100%">Lundby, Alicia</style></author><author><style face="normal" font="default" size="100%">Gudbjartsson, Daniel F</style></author><author><style face="normal" font="default" size="100%">Noseworthy, Peter A</style></author><author><style face="normal" font="default" size="100%">Eijgelsheim, Mark</style></author><author><style face="normal" font="default" size="100%">Bradford, Yuki</style></author><author><style face="normal" font="default" size="100%">Tarasov, Kirill V</style></author><author><style face="normal" font="default" size="100%">Dörr, Marcus</style></author><author><style face="normal" font="default" size="100%">Müller-Nurasyid, Martina</style></author><author><style face="normal" font="default" size="100%">Lahtinen, Annukka M</style></author><author><style face="normal" font="default" size="100%">Nolte, Ilja M</style></author><author><style face="normal" font="default" size="100%">Smith, Albert Vernon</style></author><author><style face="normal" font="default" size="100%">Bis, Joshua C</style></author><author><style face="normal" font="default" size="100%">Isaacs, Aaron</style></author><author><style face="normal" font="default" size="100%">Newhouse, Stephen J</style></author><author><style face="normal" font="default" size="100%">Evans, Daniel S</style></author><author><style face="normal" font="default" size="100%">Post, Wendy S</style></author><author><style face="normal" font="default" size="100%">Waggott, Daryl</style></author><author><style face="normal" font="default" size="100%">Lyytikäinen, Leo-Pekka</style></author><author><style face="normal" font="default" size="100%">Hicks, Andrew A</style></author><author><style face="normal" font="default" size="100%">Eisele, Lewin</style></author><author><style face="normal" font="default" size="100%">Ellinghaus, David</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Navarro, Pau</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Tanaka, Toshiko</style></author><author><style face="normal" font="default" size="100%">Tester, David J</style></author><author><style face="normal" font="default" size="100%">Chatel, Stéphanie</style></author><author><style face="normal" font="default" size="100%">Gustafsson, Stefan</style></author><author><style face="normal" font="default" size="100%">Kumari, Meena</style></author><author><style face="normal" font="default" size="100%">Morris, Richard W</style></author><author><style face="normal" font="default" size="100%">Naluai, Åsa T</style></author><author><style face="normal" font="default" size="100%">Padmanabhan, Sandosh</style></author><author><style face="normal" font="default" size="100%">Kluttig, Alexander</style></author><author><style face="normal" font="default" size="100%">Strohmer, Bernhard</style></author><author><style face="normal" font="default" size="100%">Panayiotou, Andrie G</style></author><author><style face="normal" font="default" size="100%">Torres, Maria</style></author><author><style face="normal" font="default" size="100%">Knoflach, Michael</style></author><author><style face="normal" font="default" size="100%">Hubacek, Jaroslav A</style></author><author><style face="normal" font="default" size="100%">Slowikowski, Kamil</style></author><author><style face="normal" font="default" size="100%">Raychaudhuri, Soumya</style></author><author><style face="normal" font="default" size="100%">Kumar, Runjun D</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Launer, Lenore J</style></author><author><style face="normal" font="default" size="100%">Shuldiner, Alan R</style></author><author><style face="normal" font="default" size="100%">Alonso, Alvaro</style></author><author><style face="normal" font="default" size="100%">Bader, Joel S</style></author><author><style face="normal" font="default" size="100%">Ehret, Georg</style></author><author><style face="normal" font="default" size="100%">Huang, Hailiang</style></author><author><style face="normal" font="default" size="100%">Kao, W H Linda</style></author><author><style face="normal" font="default" size="100%">Strait, James B</style></author><author><style face="normal" font="default" size="100%">Macfarlane, Peter W</style></author><author><style face="normal" font="default" size="100%">Brown, Morris</style></author><author><style face="normal" font="default" size="100%">Caulfield, Mark J</style></author><author><style face="normal" font="default" size="100%">Samani, Nilesh J</style></author><author><style face="normal" font="default" size="100%">Kronenberg, Florian</style></author><author><style face="normal" font="default" size="100%">Willeit, Johann</style></author><author><style face="normal" font="default" size="100%">Smith, J Gustav</style></author><author><style face="normal" font="default" size="100%">Greiser, Karin H</style></author><author><style face="normal" font="default" size="100%">Meyer Zu Schwabedissen, Henriette</style></author><author><style face="normal" font="default" size="100%">Werdan, Karl</style></author><author><style face="normal" font="default" size="100%">Carella, Massimo</style></author><author><style face="normal" font="default" size="100%">Zelante, Leopoldo</style></author><author><style face="normal" font="default" size="100%">Heckbert, Susan R</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Kolcic, Ivana</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Wright, Alan F</style></author><author><style face="normal" font="default" size="100%">Griffin, Maura</style></author><author><style face="normal" font="default" size="100%">Daly, Mark J</style></author><author><style face="normal" font="default" size="100%">Arnar, David O</style></author><author><style face="normal" font="default" size="100%">Holm, Hilma</style></author><author><style face="normal" font="default" size="100%">Thorsteinsdottir, Unnur</style></author><author><style face="normal" font="default" size="100%">Denny, Joshua C</style></author><author><style face="normal" font="default" size="100%">Roden, Dan M</style></author><author><style face="normal" font="default" size="100%">Zuvich, Rebecca L</style></author><author><style face="normal" font="default" size="100%">Emilsson, Valur</style></author><author><style face="normal" font="default" size="100%">Plump, Andrew S</style></author><author><style face="normal" font="default" size="100%">Larson, Martin G</style></author><author><style face="normal" font="default" size="100%">O'Donnell, Christopher J</style></author><author><style face="normal" font="default" size="100%">Yin, Xiaoyan</style></author><author><style face="normal" font="default" size="100%">Bobbo, Marco</style></author><author><style face="normal" font="default" size="100%">d'Adamo, Adamo P</style></author><author><style face="normal" font="default" size="100%">Iorio, Annamaria</style></author><author><style face="normal" font="default" size="100%">Sinagra, Gianfranco</style></author><author><style face="normal" font="default" size="100%">Carracedo, Angel</style></author><author><style face="normal" font="default" size="100%">Cummings, Steven R</style></author><author><style face="normal" font="default" size="100%">Nalls, Michael A</style></author><author><style face="normal" font="default" size="100%">Jula, Antti</style></author><author><style face="normal" font="default" size="100%">Kontula, Kimmo K</style></author><author><style face="normal" font="default" size="100%">Marjamaa, Annukka</style></author><author><style face="normal" font="default" size="100%">Oikarinen, Lasse</style></author><author><style face="normal" font="default" size="100%">Perola, Markus</style></author><author><style face="normal" font="default" size="100%">Porthan, Kimmo</style></author><author><style face="normal" font="default" size="100%">Erbel, Raimund</style></author><author><style face="normal" font="default" size="100%">Hoffmann, Per</style></author><author><style face="normal" font="default" size="100%">Jöckel, Karl-Heinz</style></author><author><style face="normal" font="default" size="100%">Kälsch, Hagen</style></author><author><style face="normal" font="default" size="100%">Nöthen, Markus M</style></author><author><style face="normal" font="default" size="100%">den Hoed, Marcel</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Thelle, Dag S</style></author><author><style face="normal" font="default" size="100%">Gieger, Christian</style></author><author><style face="normal" font="default" size="100%">Meitinger, Thomas</style></author><author><style face="normal" font="default" size="100%">Perz, Siegfried</style></author><author><style face="normal" font="default" size="100%">Peters, Annette</style></author><author><style face="normal" font="default" size="100%">Prucha, Hanna</style></author><author><style face="normal" font="default" size="100%">Sinner, Moritz F</style></author><author><style face="normal" font="default" size="100%">Waldenberger, Melanie</style></author><author><style face="normal" font="default" size="100%">de Boer, Rudolf A</style></author><author><style face="normal" font="default" size="100%">Franke, Lude</style></author><author><style face="normal" font="default" size="100%">van der Vleuten, Pieter A</style></author><author><style face="normal" font="default" size="100%">Beckmann, Britt Maria</style></author><author><style face="normal" font="default" size="100%">Martens, Eimo</style></author><author><style face="normal" font="default" size="100%">Bardai, Abdennasser</style></author><author><style face="normal" font="default" size="100%">Hofman, Nynke</style></author><author><style face="normal" font="default" size="100%">Wilde, Arthur A M</style></author><author><style face="normal" font="default" size="100%">Behr, Elijah R</style></author><author><style face="normal" font="default" size="100%">Dalageorgou, Chrysoula</style></author><author><style face="normal" font="default" size="100%">Giudicessi, John R</style></author><author><style face="normal" font="default" size="100%">Medeiros-Domingo, Argelia</style></author><author><style face="normal" font="default" size="100%">Barc, Julien</style></author><author><style face="normal" font="default" size="100%">Kyndt, Florence</style></author><author><style face="normal" font="default" size="100%">Probst, Vincent</style></author><author><style face="normal" font="default" size="100%">Ghidoni, Alice</style></author><author><style face="normal" font="default" size="100%">Insolia, Roberto</style></author><author><style face="normal" font="default" size="100%">Hamilton, Robert M</style></author><author><style face="normal" font="default" size="100%">Scherer, Stephen W</style></author><author><style face="normal" font="default" size="100%">Brandimarto, Jeffrey</style></author><author><style face="normal" font="default" size="100%">Margulies, Kenneth</style></author><author><style face="normal" font="default" size="100%">Moravec, Christine E</style></author><author><style face="normal" font="default" size="100%">del Greco M, Fabiola</style></author><author><style face="normal" font="default" size="100%">Fuchsberger, Christian</style></author><author><style face="normal" font="default" size="100%">O'Connell, Jeffrey R</style></author><author><style face="normal" font="default" size="100%">Lee, Wai K</style></author><author><style face="normal" font="default" size="100%">Watt, Graham C M</style></author><author><style face="normal" font="default" size="100%">Campbell, Harry</style></author><author><style face="normal" font="default" size="100%">Wild, Sarah H</style></author><author><style face="normal" font="default" size="100%">El Mokhtari, Nour E</style></author><author><style face="normal" font="default" size="100%">Frey, Norbert</style></author><author><style face="normal" font="default" size="100%">Asselbergs, Folkert W</style></author><author><style face="normal" font="default" size="100%">Mateo Leach, Irene</style></author><author><style face="normal" font="default" size="100%">Navis, Gerjan</style></author><author><style face="normal" font="default" size="100%">van den Berg, Maarten P</style></author><author><style face="normal" font="default" size="100%">van Veldhuisen, Dirk J</style></author><author><style face="normal" font="default" size="100%">Kellis, Manolis</style></author><author><style face="normal" font="default" size="100%">Krijthe, Bouwe P</style></author><author><style face="normal" font="default" size="100%">Franco, Oscar H</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Kors, Jan A</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Witteman, Jacqueline C M</style></author><author><style face="normal" font="default" size="100%">Kedenko, Lyudmyla</style></author><author><style face="normal" font="default" size="100%">Lamina, Claudia</style></author><author><style face="normal" font="default" size="100%">Oostra, Ben A</style></author><author><style face="normal" font="default" size="100%">Abecasis, Goncalo R</style></author><author><style face="normal" font="default" size="100%">Lakatta, Edward G</style></author><author><style face="normal" font="default" size="100%">Mulas, Antonella</style></author><author><style face="normal" font="default" size="100%">Orru, Marco</style></author><author><style face="normal" font="default" size="100%">Schlessinger, David</style></author><author><style face="normal" font="default" size="100%">Uda, Manuela</style></author><author><style face="normal" font="default" size="100%">Markus, Marcello R P</style></author><author><style face="normal" font="default" size="100%">Völker, Uwe</style></author><author><style face="normal" font="default" size="100%">Snieder, Harold</style></author><author><style face="normal" font="default" size="100%">Spector, Timothy D</style></author><author><style face="normal" font="default" size="100%">Arnlöv, Johan</style></author><author><style face="normal" font="default" size="100%">Lind, Lars</style></author><author><style face="normal" font="default" size="100%">Sundström, Johan</style></author><author><style face="normal" font="default" size="100%">Syvänen, Ann-Christine</style></author><author><style face="normal" font="default" size="100%">Kivimaki, Mika</style></author><author><style face="normal" font="default" size="100%">Kähönen, Mika</style></author><author><style face="normal" font="default" size="100%">Mononen, Nina</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli T</style></author><author><style face="normal" font="default" size="100%">Viikari, Jorma S</style></author><author><style face="normal" font="default" size="100%">Adamkova, Vera</style></author><author><style face="normal" font="default" size="100%">Kiechl, Stefan</style></author><author><style face="normal" font="default" size="100%">Brion, Maria</style></author><author><style face="normal" font="default" size="100%">Nicolaides, Andrew N</style></author><author><style face="normal" font="default" size="100%">Paulweber, Bernhard</style></author><author><style face="normal" font="default" size="100%">Haerting, Johannes</style></author><author><style face="normal" font="default" size="100%">Dominiczak, Anna F</style></author><author><style face="normal" font="default" size="100%">Nyberg, Fredrik</style></author><author><style face="normal" font="default" size="100%">Whincup, Peter H</style></author><author><style face="normal" font="default" size="100%">Hingorani, Aroon D</style></author><author><style face="normal" font="default" size="100%">Schott, Jean-Jacques</style></author><author><style face="normal" font="default" size="100%">Bezzina, Connie R</style></author><author><style face="normal" font="default" size="100%">Ingelsson, Erik</style></author><author><style face="normal" font="default" size="100%">Ferrucci, Luigi</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Wilson, James F</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Franke, Andre</style></author><author><style face="normal" font="default" size="100%">Mühleisen, Thomas W</style></author><author><style face="normal" font="default" size="100%">Pramstaller, Peter P</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho J</style></author><author><style face="normal" font="default" size="100%">Paterson, Andrew D</style></author><author><style face="normal" font="default" size="100%">Parsa, Afshin</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Siscovick, David S</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Jamshidi, Yalda</style></author><author><style face="normal" font="default" size="100%">Salomaa, Veikko</style></author><author><style face="normal" font="default" size="100%">Felix, Stephan B</style></author><author><style face="normal" font="default" size="100%">Sanna, Serena</style></author><author><style face="normal" font="default" size="100%">Ritchie, Marylyn D</style></author><author><style face="normal" font="default" size="100%">Stricker, Bruno H</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Boyer, Laurie A</style></author><author><style face="normal" font="default" size="100%">Cappola, Thomas P</style></author><author><style face="normal" font="default" size="100%">Olsen, Jesper V</style></author><author><style face="normal" font="default" size="100%">Lage, Kasper</style></author><author><style face="normal" font="default" size="100%">Schwartz, Peter J</style></author><author><style face="normal" font="default" size="100%">Kääb, Stefan</style></author><author><style face="normal" font="default" size="100%">Chakravarti, Aravinda</style></author><author><style face="normal" font="default" size="100%">Ackerman, Michael J</style></author><author><style face="normal" font="default" size="100%">Pfeufer, Arne</style></author><author><style face="normal" font="default" size="100%">de Bakker, Paul I W</style></author><author><style face="normal" font="default" size="100%">Newton-Cheh, Christopher</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">CARe Consortium</style></author><author><style face="normal" font="default" size="100%">COGENT Consortium</style></author><author><style face="normal" font="default" size="100%">DCCT/EDIC</style></author><author><style face="normal" font="default" size="100%">eMERGE Consortium</style></author><author><style face="normal" font="default" size="100%">HRGEN Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat. Genet.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Arrhythmias, Cardiac</style></keyword><keyword><style  face="normal" font="default" size="100%">Calcium Signaling</style></keyword><keyword><style  face="normal" font="default" size="100%">Death, Sudden, Cardiac</style></keyword><keyword><style  face="normal" font="default" size="100%">Electrocardiography</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Heart Ventricles</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Long QT Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Myocardium</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014 Aug</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">46</style></volume><pages><style face="normal" font="default" size="100%">826-36</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">8</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/24952745?dopt=Abstract</style></custom1></record></records></xml>