<?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%">Hysi, Pirro G</style></author><author><style face="normal" font="default" size="100%">Valdes, Ana M</style></author><author><style face="normal" font="default" size="100%">Liu, Fan</style></author><author><style face="normal" font="default" size="100%">Furlotte, Nicholas A</style></author><author><style face="normal" font="default" size="100%">Evans, David M</style></author><author><style face="normal" font="default" size="100%">Bataille, Veronique</style></author><author><style face="normal" font="default" size="100%">Visconti, Alessia</style></author><author><style face="normal" font="default" size="100%">Hemani, Gibran</style></author><author><style face="normal" font="default" size="100%">McMahon, George</style></author><author><style face="normal" font="default" size="100%">Ring, Susan M</style></author><author><style face="normal" font="default" size="100%">Smith, George Davey</style></author><author><style face="normal" font="default" size="100%">Duffy, David L</style></author><author><style face="normal" font="default" size="100%">Zhu, Gu</style></author><author><style face="normal" font="default" size="100%">Gordon, Scott D</style></author><author><style face="normal" font="default" size="100%">Medland, Sarah E</style></author><author><style face="normal" font="default" size="100%">Lin, Bochao D</style></author><author><style face="normal" font="default" size="100%">Willemsen, Gonneke</style></author><author><style face="normal" font="default" size="100%">Jan Hottenga, Jouke</style></author><author><style face="normal" font="default" size="100%">Vuckovic, Dragana</style></author><author><style face="normal" font="default" size="100%">Girotto, Giorgia</style></author><author><style face="normal" font="default" size="100%">Gandin, Ilaria</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia</style></author><author><style face="normal" font="default" size="100%">Concas, Maria Pina</style></author><author><style face="normal" font="default" size="100%">Brumat, Marco</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Cocca, Massimiliano</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Yazar, Seyhan</style></author><author><style face="normal" font="default" size="100%">Hewitt, Alex W</style></author><author><style face="normal" font="default" size="100%">Chen, Yan</style></author><author><style face="normal" font="default" size="100%">Zeng, Changqing</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Ikram, M Arfan</style></author><author><style face="normal" font="default" size="100%">Hamer, Merel A</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Nijsten, Tamar</style></author><author><style face="normal" font="default" size="100%">Mackey, David A</style></author><author><style face="normal" font="default" size="100%">Falchi, Mario</style></author><author><style face="normal" font="default" size="100%">Boomsma, Dorret I</style></author><author><style face="normal" font="default" size="100%">Martin, Nicholas G</style></author><author><style face="normal" font="default" size="100%">Hinds, David A</style></author><author><style face="normal" font="default" size="100%">Kayser, Manfred</style></author><author><style face="normal" font="default" size="100%">Spector, Timothy D</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">International Visible Trait Genetics Consortium</style></author><author><style face="normal" font="default" size="100%">International Visible Trait Genetics Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.</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 May</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">50</style></volume><pages><style face="normal" font="default" size="100%">652-656</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a genome-wide association study meta-analysis of almost 300,000 participants of European descent. We identified 123 autosomal and one X-chromosome loci significantly associated with hair color; all but 13 are novel. Collectively, single-nucleotide polymorphisms associated with hair color within these loci explain 34.6% of red hair, 24.8% of blond hair, and 26.1% of black hair heritability in the study populations. These results confirm the polygenic nature of complex phenotypes and improve our understanding of melanin pigment metabolism in humans.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">5</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29662168?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%">Feitosa, Mary F</style></author><author><style face="normal" font="default" size="100%">Kraja, Aldi T</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">Sung, Yun J</style></author><author><style face="normal" font="default" size="100%">Winkler, Thomas W</style></author><author><style face="normal" font="default" size="100%">Ntalla, 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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%">Day, Felix R</style></author><author><style face="normal" font="default" size="100%">Thompson, Deborah J</style></author><author><style face="normal" font="default" size="100%">Helgason, Hannes</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">Finucane, Hilary</style></author><author><style face="normal" font="default" size="100%">Sulem, Patrick</style></author><author><style face="normal" font="default" size="100%">Ruth, Katherine S</style></author><author><style face="normal" font="default" size="100%">Whalen, Sean</style></author><author><style face="normal" font="default" size="100%">Sarkar, Abhishek K</style></author><author><style face="normal" font="default" size="100%">Albrecht, Eva</style></author><author><style face="normal" font="default" size="100%">Altmaier, Elisabeth</style></author><author><style face="normal" font="default" size="100%">Amini, Marzyeh</style></author><author><style face="normal" font="default" size="100%">Barbieri, Caterina M</style></author><author><style face="normal" font="default" size="100%">Boutin, Thibaud</style></author><author><style face="normal" font="default" size="100%">Campbell, Archie</style></author><author><style face="normal" font="default" size="100%">Demerath, Ellen</style></author><author><style face="normal" font="default" size="100%">Giri, Ayush</style></author><author><style face="normal" font="default" size="100%">He, Chunyan</style></author><author><style face="normal" font="default" size="100%">Hottenga, Jouke J</style></author><author><style face="normal" font="default" size="100%">Karlsson, Robert</style></author><author><style face="normal" font="default" size="100%">Kolcic, Ivana</style></author><author><style face="normal" font="default" size="100%">Loh, Po-Ru</style></author><author><style face="normal" font="default" size="100%">Lunetta, Kathryn L</style></author><author><style face="normal" font="default" size="100%">Mangino, Massimo</style></author><author><style face="normal" font="default" size="100%">Marco, Brumat</style></author><author><style face="normal" font="default" size="100%">McMahon, George</style></author><author><style face="normal" font="default" size="100%">Medland, Sarah E</style></author><author><style face="normal" font="default" size="100%">Nolte, Ilja M</style></author><author><style face="normal" font="default" size="100%">Noordam, Raymond</style></author><author><style face="normal" font="default" size="100%">Nutile, Teresa</style></author><author><style face="normal" font="default" size="100%">Paternoster, Lavinia</style></author><author><style face="normal" font="default" size="100%">Perjakova, Natalia</style></author><author><style face="normal" font="default" size="100%">Porcu, Eleonora</style></author><author><style face="normal" font="default" size="100%">Rose, Lynda M</style></author><author><style face="normal" font="default" size="100%">Schraut, Katharina E</style></author><author><style face="normal" font="default" size="100%">Segrè, Ayellet V</style></author><author><style face="normal" font="default" size="100%">Smith, Albert V</style></author><author><style face="normal" font="default" size="100%">Stolk, Lisette</style></author><author><style face="normal" font="default" size="100%">Teumer, Alexander</style></author><author><style face="normal" font="default" size="100%">Andrulis, Irene L</style></author><author><style face="normal" font="default" size="100%">Bandinelli, Stefania</style></author><author><style face="normal" font="default" size="100%">Beckmann, Matthias W</style></author><author><style face="normal" font="default" size="100%">Benitez, Javier</style></author><author><style face="normal" font="default" size="100%">Bergmann, Sven</style></author><author><style face="normal" font="default" size="100%">Bochud, Murielle</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Bojesen, Stig E</style></author><author><style face="normal" font="default" size="100%">Bolla, Manjeet K</style></author><author><style face="normal" font="default" size="100%">Brand, Judith S</style></author><author><style face="normal" font="default" size="100%">Brauch, Hiltrud</style></author><author><style face="normal" font="default" size="100%">Brenner, Hermann</style></author><author><style face="normal" font="default" size="100%">Broer, Linda</style></author><author><style face="normal" font="default" size="100%">Brüning, Thomas</style></author><author><style face="normal" font="default" size="100%">Buring, Julie E</style></author><author><style face="normal" font="default" size="100%">Campbell, Harry</style></author><author><style face="normal" font="default" size="100%">Catamo, Eulalia</style></author><author><style face="normal" font="default" size="100%">Chanock, Stephen</style></author><author><style face="normal" font="default" size="100%">Chenevix-Trench, Georgia</style></author><author><style face="normal" font="default" size="100%">Corre, Tanguy</style></author><author><style face="normal" font="default" size="100%">Couch, Fergus J</style></author><author><style face="normal" font="default" size="100%">Cousminer, Diana L</style></author><author><style face="normal" font="default" size="100%">Cox, Angela</style></author><author><style face="normal" font="default" size="100%">Crisponi, Laura</style></author><author><style face="normal" font="default" size="100%">Czene, Kamila</style></author><author><style face="normal" font="default" size="100%">Davey Smith, George</style></author><author><style face="normal" font="default" size="100%">de Geus, Eco J C N</style></author><author><style face="normal" font="default" size="100%">de Mutsert, Renée</style></author><author><style face="normal" font="default" size="100%">De Vivo, Immaculata</style></author><author><style face="normal" font="default" size="100%">Dennis, Joe</style></author><author><style face="normal" font="default" size="100%">Devilee, Peter</style></author><author><style face="normal" font="default" size="100%">Dos-Santos-Silva, Isabel</style></author><author><style face="normal" font="default" size="100%">Dunning, Alison M</style></author><author><style face="normal" font="default" size="100%">Eriksson, Johan G</style></author><author><style face="normal" font="default" size="100%">Fasching, Peter A</style></author><author><style face="normal" font="default" size="100%">Fernández-Rhodes, Lindsay</style></author><author><style face="normal" font="default" size="100%">Ferrucci, Luigi</style></author><author><style face="normal" font="default" size="100%">Flesch-Janys, Dieter</style></author><author><style face="normal" font="default" size="100%">Franke, Lude</style></author><author><style face="normal" font="default" size="100%">Gabrielson, Marike</style></author><author><style face="normal" font="default" size="100%">Gandin, Ilaria</style></author><author><style face="normal" font="default" size="100%">Giles, Graham G</style></author><author><style face="normal" font="default" size="100%">Grallert, Harald</style></author><author><style face="normal" font="default" size="100%">Gudbjartsson, Daniel F</style></author><author><style face="normal" font="default" size="100%">Guenel, Pascal</style></author><author><style face="normal" font="default" size="100%">Hall, Per</style></author><author><style face="normal" font="default" size="100%">Hallberg, Emily</style></author><author><style face="normal" font="default" size="100%">Hamann, Ute</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Hartman, Catharina A</style></author><author><style face="normal" font="default" size="100%">Heiss, Gerardo</style></author><author><style face="normal" font="default" size="100%">Hooning, Maartje J</style></author><author><style face="normal" font="default" size="100%">Hopper, John L</style></author><author><style face="normal" font="default" size="100%">Hu, Frank</style></author><author><style face="normal" font="default" size="100%">Hunter, David J</style></author><author><style face="normal" font="default" size="100%">Ikram, M Arfan</style></author><author><style face="normal" font="default" size="100%">Im, Hae Kyung</style></author><author><style face="normal" font="default" size="100%">Järvelin, Marjo-Riitta</style></author><author><style face="normal" font="default" size="100%">Joshi, Peter K</style></author><author><style face="normal" font="default" size="100%">Karasik, David</style></author><author><style face="normal" font="default" size="100%">Kellis, Manolis</style></author><author><style face="normal" font="default" size="100%">Kutalik, Zoltán</style></author><author><style face="normal" font="default" size="100%">LaChance, Genevieve</style></author><author><style face="normal" font="default" size="100%">Lambrechts, Diether</style></author><author><style face="normal" font="default" size="100%">Langenberg, Claudia</style></author><author><style face="normal" font="default" size="100%">Launer, Lenore J</style></author><author><style face="normal" font="default" size="100%">Laven, Joop S E</style></author><author><style face="normal" font="default" size="100%">Lenarduzzi, Stefania</style></author><author><style face="normal" font="default" size="100%">Li, Jingmei</style></author><author><style face="normal" font="default" size="100%">Lind, Penelope A</style></author><author><style face="normal" font="default" size="100%">Lindström, Sara</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">Luan, Jian'an</style></author><author><style face="normal" font="default" size="100%">Mägi, Reedik</style></author><author><style face="normal" font="default" size="100%">Mannermaa, Arto</style></author><author><style face="normal" font="default" size="100%">Mbarek, Hamdi</style></author><author><style face="normal" font="default" size="100%">McCarthy, Mark I</style></author><author><style face="normal" font="default" size="100%">Meisinger, Christa</style></author><author><style face="normal" font="default" size="100%">Meitinger, Thomas</style></author><author><style face="normal" font="default" size="100%">Menni, Cristina</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Michailidou, Kyriaki</style></author><author><style face="normal" font="default" size="100%">Milani, Lili</style></author><author><style face="normal" font="default" size="100%">Milne, Roger L</style></author><author><style face="normal" font="default" size="100%">Montgomery, Grant W</style></author><author><style face="normal" font="default" size="100%">Mulligan, Anna M</style></author><author><style face="normal" font="default" size="100%">Nalls, Mike A</style></author><author><style face="normal" font="default" size="100%">Navarro, Pau</style></author><author><style face="normal" font="default" size="100%">Nevanlinna, Heli</style></author><author><style face="normal" font="default" size="100%">Nyholt, Dale R</style></author><author><style face="normal" font="default" size="100%">Oldehinkel, Albertine J</style></author><author><style face="normal" font="default" size="100%">O'Mara, Tracy A</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%">Pedersen, Nancy</style></author><author><style face="normal" font="default" size="100%">Peters, Annette</style></author><author><style face="normal" font="default" size="100%">Peto, Julian</style></author><author><style face="normal" font="default" size="100%">Pharoah, Paul D P</style></author><author><style face="normal" font="default" size="100%">Pouta, Anneli</style></author><author><style face="normal" font="default" size="100%">Radice, Paolo</style></author><author><style face="normal" font="default" size="100%">Rahman, 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Vilmundur</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Kraft, Peter</style></author><author><style face="normal" font="default" size="100%">Lawlor, Debbie A</style></author><author><style face="normal" font="default" size="100%">Magnusson, Patrik K E</style></author><author><style face="normal" font="default" size="100%">Martin, Nicholas G</style></author><author><style face="normal" font="default" size="100%">Mook-Kanamori, Dennis O</style></author><author><style face="normal" font="default" size="100%">Nohr, Ellen A</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%">Price, Alkes L</style></author><author><style face="normal" font="default" size="100%">Ridker, Paul M</style></author><author><style face="normal" font="default" size="100%">Snieder, Harold</style></author><author><style face="normal" font="default" size="100%">Spector, Tim D</style></author><author><style face="normal" font="default" size="100%">Stöckl, Doris</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Visser, Jenny A</style></author><author><style face="normal" font="default" size="100%">Völzke, Henry</style></author><author><style face="normal" font="default" size="100%">Wareham, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Wilson, James F</style></author><author><style face="normal" font="default" size="100%">Spurdle, Amanda B</style></author><author><style face="normal" font="default" size="100%">Thorsteindottir, Unnur</style></author><author><style face="normal" font="default" size="100%">Pollard, Katherine S</style></author><author><style face="normal" font="default" size="100%">Easton, Douglas F</style></author><author><style face="normal" font="default" size="100%">Tung, Joyce Y</style></author><author><style face="normal" font="default" size="100%">Chang-Claude, Jenny</style></author><author><style face="normal" font="default" size="100%">Hinds, David</style></author><author><style face="normal" font="default" size="100%">Murray, Anna</style></author><author><style face="normal" font="default" size="100%">Murabito, Joanne M</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Ong, Ken K</style></author><author><style face="normal" font="default" size="100%">Perry, John R B</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">LifeLines Cohort Study</style></author><author><style face="normal" font="default" size="100%">InterAct Consortium</style></author><author><style face="normal" font="default" size="100%">kConFab/AOCS Investigators</style></author><author><style face="normal" font="default" size="100%">Endometrial Cancer Association Consortium</style></author><author><style face="normal" font="default" size="100%">Ovarian Cancer Association Consortium</style></author><author><style face="normal" font="default" size="100%">PRACTICAL Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.</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%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Age Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Body Mass Index</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Genetic</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%">Genomic Imprinting</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Intercellular Signaling Peptides and Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Membrane Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Menarche</style></keyword><keyword><style  face="normal" font="default" size="100%">Neoplasms</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Puberty</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Ribonucleoproteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Risk Factors</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 Jun</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">49</style></volume><pages><style face="normal" font="default" size="100%">834-841</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 timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P &lt; 5 × 10) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ∼7.4% of the population variance in age at menarche, corresponding to ∼25% of the estimated heritability. We implicate ∼250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues. Rare variants near the imprinted genes MKRN3 and DLK1 were identified, exhibiting large effects when paternally inherited. Mendelian randomization analyses suggest causal inverse associations, independent of body mass index (BMI), between puberty timing and risks for breast and endometrial cancers in women and prostate cancer in men. In aggregate, our findings highlight the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility.&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/28436984?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%">Marouli, Eirini</style></author><author><style face="normal" font="default" size="100%">Graff, Mariaelisa</style></author><author><style face="normal" font="default" size="100%">Medina-Gomez, Carolina</style></author><author><style face="normal" font="default" size="100%">Lo, Ken Sin</style></author><author><style face="normal" font="default" size="100%">Wood, Andrew R</style></author><author><style face="normal" font="default" 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He</style></author><author><style face="normal" font="default" size="100%">Zhou, Wei</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Boehnke, Michael</style></author><author><style face="normal" font="default" size="100%">Kathiresan, Sekar</style></author><author><style face="normal" font="default" size="100%">McCarthy, Mark I</style></author><author><style face="normal" font="default" size="100%">Willer, Cristen J</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Borecki, Ingrid B</style></author><author><style face="normal" font="default" size="100%">Liu, Dajiang J</style></author><author><style face="normal" font="default" size="100%">North, Kari E</style></author><author><style face="normal" font="default" size="100%">Heard-Costa, Nancy L</style></author><author><style face="normal" font="default" size="100%">Pers, Tune H</style></author><author><style face="normal" font="default" size="100%">Lindgren, Cecilia M</style></author><author><style face="normal" font="default" size="100%">Oxvig, Claus</style></author><author><style face="normal" font="default" size="100%">Kutalik, Zoltán</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Frayling, Timothy M</style></author><author><style face="normal" font="default" size="100%">Hirschhorn, Joel N</style></author><author><style face="normal" font="default" size="100%">Deloukas, Panos</style></author><author><style face="normal" font="default" size="100%">Lettre, Guillaume</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">EPIC-InterAct Consortium</style></author><author><style face="normal" font="default" size="100%">CHD Exome+ Consortium</style></author><author><style face="normal" font="default" size="100%">ExomeBP Consortium</style></author><author><style face="normal" font="default" size="100%">T2D-Genes Consortium</style></author><author><style face="normal" font="default" size="100%">GoT2D Genes Consortium</style></author><author><style face="normal" font="default" size="100%">Global Lipids Genetics Consortium</style></author><author><style face="normal" font="default" size="100%">ReproGen Consortium</style></author><author><style face="normal" font="default" size="100%">MAGIC Investigators</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Rare and low-frequency coding variants alter human adult height.</style></title><secondary-title><style face="normal" font="default" size="100%">Nature</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nature</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%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Body Height</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Adhesion Molecules</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Frequency</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Glycoproteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Glycosaminoglycans</style></keyword><keyword><style  face="normal" font="default" size="100%">Hedgehog Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Intercellular Signaling Peptides and Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Interferon Regulatory Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Interleukin-11 Receptor alpha Subunit</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Multifactorial Inheritance</style></keyword><keyword><style  face="normal" font="default" size="100%">NADPH Oxidase 4</style></keyword><keyword><style  face="normal" font="default" size="100%">NADPH Oxidases</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Pregnancy-Associated Plasma Protein-A</style></keyword><keyword><style  face="normal" font="default" size="100%">Procollagen N-Endopeptidase</style></keyword><keyword><style  face="normal" font="default" size="100%">Proteoglycans</style></keyword><keyword><style  face="normal" font="default" size="100%">Proteolysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptors, Androgen</style></keyword><keyword><style  face="normal" font="default" size="100%">Somatomedins</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 02 09</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">542</style></volume><pages><style face="normal" font="default" size="100%">186-190</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">7640</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/28146470?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%">Joshi, Peter K</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Mattsson, Hannele</style></author><author><style face="normal" font="default" size="100%">Eklund, Niina</style></author><author><style face="normal" font="default" size="100%">Gandin, Ilaria</style></author><author><style face="normal" font="default" size="100%">Nutile, Teresa</style></author><author><style face="normal" font="default" size="100%">Jackson, Anne U</style></author><author><style face="normal" font="default" size="100%">Schurmann, Claudia</style></author><author><style face="normal" font="default" size="100%">Smith, Albert V</style></author><author><style face="normal" font="default" size="100%">Zhang, Weihua</style></author><author><style face="normal" font="default" size="100%">Okada, Yukinori</style></author><author><style face="normal" font="default" size="100%">Stančáková, Alena</style></author><author><style face="normal" font="default" size="100%">Faul, Jessica D</style></author><author><style face="normal" font="default" size="100%">Zhao, Wei</style></author><author><style face="normal" font="default" size="100%">Bartz, Traci M</style></author><author><style face="normal" font="default" size="100%">Concas, Maria 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Erkki</style></author><author><style face="normal" font="default" size="100%">Becker, Diane M</style></author><author><style face="normal" font="default" size="100%">Bharadwaj, Dwaipayan</style></author><author><style face="normal" font="default" size="100%">Mohlke, Karen L</style></author><author><style face="normal" font="default" size="100%">Boehnke, Michael</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Sanghera, Dharambir K</style></author><author><style face="normal" font="default" size="100%">Teumer, Alexander</style></author><author><style face="normal" font="default" size="100%">Zeggini, Eleftheria</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Ulivi, Sheila</style></author><author><style face="normal" font="default" size="100%">Ober, Carole</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Porteous, David J</style></author><author><style face="normal" font="default" size="100%">Ciullo, Marina</style></author><author><style face="normal" font="default" size="100%">Spector, Tim D</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Dupuis, Josée</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Wright, Alan F</style></author><author><style face="normal" font="default" size="100%">Chandak, Giriraj R</style></author><author><style face="normal" font="default" size="100%">Vollenweider, Peter</style></author><author><style face="normal" font="default" size="100%">Shuldiner, Alan R</style></author><author><style face="normal" font="default" size="100%">Ridker, Paul M</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Sattar, Naveed</style></author><author><style face="normal" font="default" size="100%">Gyllensten, Ulf</style></author><author><style face="normal" font="default" size="100%">North, Kari E</style></author><author><style face="normal" font="default" size="100%">Pirastu, Mario</style></author><author><style face="normal" font="default" size="100%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Weir, David R</style></author><author><style face="normal" font="default" size="100%">Laakso, Markku</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Takahashi, Atsushi</style></author><author><style face="normal" font="default" size="100%">Chambers, John C</style></author><author><style face="normal" font="default" size="100%">Kooner, Jaspal S</style></author><author><style face="normal" font="default" size="100%">Strachan, David P</style></author><author><style face="normal" font="default" size="100%">Campbell, Harry</style></author><author><style face="normal" font="default" size="100%">Hirschhorn, Joel N</style></author><author><style face="normal" font="default" size="100%">Perola, Markus</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Wilson, James F</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">BioBank Japan Project</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Directional dominance on stature and cognition in diverse human populations.</style></title><secondary-title><style face="normal" font="default" size="100%">Nature</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nature</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Biological Evolution</style></keyword><keyword><style  face="normal" font="default" size="100%">Blood Pressure</style></keyword><keyword><style  face="normal" font="default" size="100%">Body Height</style></keyword><keyword><style  face="normal" font="default" size="100%">Cholesterol, LDL</style></keyword><keyword><style  face="normal" font="default" size="100%">Cognition</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Educational Status</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Forced Expiratory Volume</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Homozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Lung Volume Measurements</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Jul 23</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">523</style></volume><pages><style face="normal" font="default" size="100%">459-62</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P &lt; 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">7561</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26131930?dopt=Abstract</style></custom1></record></records></xml>