<?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%">Tedja, Milly S</style></author><author><style face="normal" font="default" size="100%">Wojciechowski, Robert</style></author><author><style face="normal" font="default" size="100%">Hysi, Pirro G</style></author><author><style face="normal" font="default" size="100%">Eriksson, Nicholas</style></author><author><style face="normal" font="default" size="100%">Furlotte, Nicholas A</style></author><author><style face="normal" font="default" size="100%">Verhoeven, Virginie J M</style></author><author><style face="normal" font="default" size="100%">Iglesias, Adriana I</style></author><author><style face="normal" font="default" size="100%">Meester-Smoor, Magda A</style></author><author><style face="normal" font="default" size="100%">Tompson, Stuart W</style></author><author><style face="normal" font="default" size="100%">Fan, Qiao</style></author><author><style face="normal" font="default" size="100%">Khawaja, Anthony P</style></author><author><style face="normal" font="default" size="100%">Cheng, Ching-Yu</style></author><author><style face="normal" font="default" size="100%">Höhn, René</style></author><author><style face="normal" font="default" size="100%">Yamashiro, Kenji</style></author><author><style face="normal" font="default" size="100%">Wenocur, Adam</style></author><author><style face="normal" font="default" size="100%">Grazal, Clare</style></author><author><style face="normal" font="default" size="100%">Haller, Toomas</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Wedenoja, Juho</style></author><author><style face="normal" font="default" size="100%">Jonas, Jost B</style></author><author><style face="normal" font="default" size="100%">Wang, Ya Xing</style></author><author><style face="normal" font="default" size="100%">Xie, Jing</style></author><author><style face="normal" font="default" size="100%">Mitchell, Paul</style></author><author><style face="normal" font="default" size="100%">Foster, Paul J</style></author><author><style face="normal" font="default" size="100%">Klein, Barbara E K</style></author><author><style face="normal" font="default" size="100%">Klein, Ronald</style></author><author><style face="normal" font="default" size="100%">Paterson, Andrew D</style></author><author><style face="normal" font="default" size="100%">Hosseini, S Mohsen</style></author><author><style face="normal" font="default" size="100%">Shah, Rupal L</style></author><author><style face="normal" font="default" size="100%">Williams, Cathy</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%">Gupta, Preeti</style></author><author><style face="normal" font="default" size="100%">Zhao, Wanting</style></author><author><style face="normal" font="default" size="100%">Shi, Yuan</style></author><author><style face="normal" font="default" size="100%">Saw, Woei-Yuh</style></author><author><style face="normal" font="default" size="100%">Tai, E-Shyong</style></author><author><style face="normal" font="default" size="100%">Sim, Xue Ling</style></author><author><style face="normal" font="default" size="100%">Huffman, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Bencic, Goran</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Wilson, James F</style></author><author><style face="normal" font="default" size="100%">Joshi, Peter K</style></author><author><style face="normal" font="default" size="100%">Tsujikawa, Akitaka</style></author><author><style face="normal" font="default" size="100%">Matsuda, Fumihiko</style></author><author><style face="normal" font="default" size="100%">Whisenhunt, Kristina N</style></author><author><style face="normal" font="default" size="100%">Zeller, Tanja</style></author><author><style face="normal" font="default" size="100%">van der Spek, Peter J</style></author><author><style face="normal" font="default" size="100%">Haak, Roxanna</style></author><author><style face="normal" font="default" size="100%">Meijers-Heijboer, Hanne</style></author><author><style face="normal" font="default" size="100%">van Leeuwen, Elisabeth M</style></author><author><style face="normal" font="default" size="100%">Iyengar, Sudha K</style></author><author><style face="normal" font="default" size="100%">Lass, Jonathan H</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Vingerling, Johannes R</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli T</style></author><author><style face="normal" font="default" size="100%">Biino, Ginevra</style></author><author><style face="normal" font="default" size="100%">Concas, Maria Pina</style></author><author><style face="normal" font="default" size="100%">Schwantes-An, Tae-Hwi</style></author><author><style face="normal" font="default" size="100%">Igo, Robert P</style></author><author><style face="normal" font="default" size="100%">Cuellar-Partida, Gabriel</style></author><author><style face="normal" font="default" size="100%">Martin, Nicholas G</style></author><author><style face="normal" font="default" size="100%">Craig, Jamie E</style></author><author><style face="normal" font="default" size="100%">Gharahkhani, Puya</style></author><author><style face="normal" font="default" size="100%">Williams, Katie M</style></author><author><style face="normal" font="default" size="100%">Nag, Abhishek</style></author><author><style face="normal" font="default" size="100%">Rahi, Jugnoo S</style></author><author><style face="normal" font="default" size="100%">Cumberland, Phillippa M</style></author><author><style face="normal" font="default" size="100%">Delcourt, Cécile</style></author><author><style face="normal" font="default" size="100%">Bellenguez, Céline</style></author><author><style face="normal" font="default" size="100%">Ried, Janina S</style></author><author><style face="normal" font="default" size="100%">Bergen, Arthur A</style></author><author><style face="normal" font="default" size="100%">Meitinger, Thomas</style></author><author><style face="normal" font="default" size="100%">Gieger, Christian</style></author><author><style face="normal" font="default" size="100%">Wong, Tien Yin</style></author><author><style face="normal" font="default" size="100%">Hewitt, Alex W</style></author><author><style face="normal" font="default" size="100%">Mackey, David A</style></author><author><style face="normal" font="default" size="100%">Simpson, Claire L</style></author><author><style face="normal" font="default" size="100%">Pfeiffer, Norbert</style></author><author><style face="normal" font="default" size="100%">Pärssinen, Olavi</style></author><author><style face="normal" font="default" size="100%">Baird, Paul N</style></author><author><style face="normal" font="default" size="100%">Vitart, Veronique</style></author><author><style face="normal" font="default" size="100%">Amin, Najaf</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Bailey-Wilson, Joan E</style></author><author><style face="normal" font="default" size="100%">Young, Terri L</style></author><author><style face="normal" font="default" size="100%">Saw, Seang-Mei</style></author><author><style face="normal" font="default" size="100%">Stambolian, Dwight</style></author><author><style face="normal" font="default" size="100%">MacGregor, Stuart</style></author><author><style face="normal" font="default" size="100%">Guggenheim, Jeremy A</style></author><author><style face="normal" font="default" size="100%">Tung, Joyce Y</style></author><author><style face="normal" font="default" size="100%">Hammond, Christopher J</style></author><author><style face="normal" font="default" size="100%">Klaver, Caroline C W</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">CREAM Consortium</style></author><author><style face="normal" font="default" size="100%">23andMe Research Team</style></author><author><style face="normal" font="default" size="100%">UK Biobank Eye and Vision Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.</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 Jun</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">50</style></volume><pages><style face="normal" font="default" size="100%">834-848</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (&gt;0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers.&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/29808027?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%">Shah, Rupal L</style></author><author><style face="normal" font="default" size="100%">Li, Qing</style></author><author><style face="normal" font="default" size="100%">Zhao, Wanting</style></author><author><style face="normal" font="default" size="100%">Tedja, Milly S</style></author><author><style face="normal" font="default" size="100%">Tideman, J Willem L</style></author><author><style face="normal" font="default" size="100%">Khawaja, Anthony P</style></author><author><style face="normal" font="default" size="100%">Fan, Qiao</style></author><author><style face="normal" font="default" size="100%">Yazar, Seyhan</style></author><author><style face="normal" font="default" size="100%">Williams, Katie M</style></author><author><style face="normal" font="default" size="100%">Verhoeven, Virginie J M</style></author><author><style face="normal" font="default" size="100%">Xie, Jing</style></author><author><style face="normal" font="default" size="100%">Wang, Ya Xing</style></author><author><style face="normal" font="default" size="100%">Hess, Moritz</style></author><author><style face="normal" font="default" size="100%">Nickels, Stefan</style></author><author><style face="normal" font="default" size="100%">Lackner, Karl J</style></author><author><style face="normal" font="default" size="100%">Pärssinen, Olavi</style></author><author><style face="normal" font="default" size="100%">Wedenoja, Juho</style></author><author><style face="normal" font="default" size="100%">Biino, Ginevra</style></author><author><style face="normal" font="default" size="100%">Concas, Maria Pina</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Jaddoe, Vincent W V</style></author><author><style face="normal" font="default" size="100%">Hysi, Pirro G</style></author><author><style face="normal" font="default" size="100%">Sim, Xueling</style></author><author><style face="normal" font="default" size="100%">Tan, Nicholas</style></author><author><style face="normal" font="default" size="100%">Tham, Yih-Chung</style></author><author><style face="normal" font="default" size="100%">Sensaki, Sonoko</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Vingerling, Johannes R</style></author><author><style face="normal" font="default" size="100%">Jonas, Jost B</style></author><author><style face="normal" font="default" size="100%">Mitchell, Paul</style></author><author><style face="normal" font="default" size="100%">Hammond, Christopher J</style></author><author><style face="normal" font="default" size="100%">Höhn, René</style></author><author><style face="normal" font="default" size="100%">Baird, Paul N</style></author><author><style face="normal" font="default" size="100%">Wong, Tien-Yin</style></author><author><style face="normal" font="default" size="100%">Cheng, Chinfsg-Yu</style></author><author><style face="normal" font="default" size="100%">Teo, Yik Ying</style></author><author><style face="normal" font="default" size="100%">Mackey, David A</style></author><author><style face="normal" font="default" size="100%">Williams, Cathy</style></author><author><style face="normal" font="default" size="100%">Saw, Seang-Mei</style></author><author><style face="normal" font="default" size="100%">Klaver, Caroline C W</style></author><author><style face="normal" font="default" size="100%">Guggenheim, Jeremy A</style></author><author><style face="normal" font="default" size="100%">Bailey-Wilson, Joan E</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">CREAM Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">A genome-wide association study of corneal astigmatism: The CREAM Consortium.</style></title><secondary-title><style face="normal" font="default" size="100%">Mol Vis</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Mol. Vis.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Acid Phosphatase</style></keyword><keyword><style  face="normal" font="default" size="100%">Asian Continental Ancestry Group</style></keyword><keyword><style  face="normal" font="default" size="100%">Astigmatism</style></keyword><keyword><style  face="normal" font="default" size="100%">Claudins</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Cornea</style></keyword><keyword><style  face="normal" font="default" size="100%">Corneal Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">European Continental Ancestry Group</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression</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%">Intracellular Signaling Peptides and Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Odds Ratio</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptor, Platelet-Derived Growth Factor alpha</style></keyword><keyword><style  face="normal" font="default" size="100%">Software</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%">24</style></volume><pages><style face="normal" font="default" size="100%">127-142</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;Purpose: &lt;/b&gt;To identify genes and genetic markers associated with corneal astigmatism.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Methods: &lt;/b&gt;A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having &gt;0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Results: &lt;/b&gt;The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha () gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08-1.16), p=5.55×10. No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans-claudin-7 (), acid phosphatase 2, lysosomal (), and TNF alpha-induced protein 8 like 3 ().&lt;/p&gt;&lt;p&gt;&lt;b&gt;Conclusions: &lt;/b&gt;In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the  gene, gene-based analysis identified three novel candidate genes, , , and , that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29422769?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%">Tachmazidou, Ioanna</style></author><author><style face="normal" font="default" size="100%">Süveges, Dániel</style></author><author><style face="normal" font="default" size="100%">Min, Josine L</style></author><author><style face="normal" font="default" size="100%">Ritchie, Graham R S</style></author><author><style face="normal" font="default" size="100%">Steinberg, Julia</style></author><author><style face="normal" font="default" size="100%">Walter, Klaudia</style></author><author><style face="normal" font="default" size="100%">Iotchkova, Valentina</style></author><author><style face="normal" font="default" size="100%">Schwartzentruber, Jeremy</style></author><author><style face="normal" font="default" size="100%">Huang, Jie</style></author><author><style face="normal" font="default" size="100%">Memari, Yasin</style></author><author><style face="normal" font="default" size="100%">McCarthy, Shane</style></author><author><style face="normal" font="default" size="100%">Crawford, Andrew A</style></author><author><style face="normal" font="default" size="100%">Bombieri, Cristina</style></author><author><style face="normal" font="default" size="100%">Cocca, Massimiliano</style></author><author><style face="normal" font="default" size="100%">Farmaki, Aliki-Eleni</style></author><author><style face="normal" font="default" size="100%">Gaunt, Tom R</style></author><author><style face="normal" font="default" size="100%">Jousilahti, Pekka</style></author><author><style face="normal" font="default" size="100%">Kooijman, Marjolein N</style></author><author><style face="normal" font="default" size="100%">Lehne, Benjamin</style></author><author><style face="normal" font="default" size="100%">Malerba, Giovanni</style></author><author><style face="normal" font="default" size="100%">Männistö, Satu</style></author><author><style face="normal" font="default" size="100%">Matchan, Angela</style></author><author><style face="normal" font="default" size="100%">Medina-Gomez, Carolina</style></author><author><style face="normal" font="default" size="100%">Metrustry, Sarah J</style></author><author><style face="normal" font="default" size="100%">Nag, Abhishek</style></author><author><style face="normal" font="default" size="100%">Ntalla, Ioanna</style></author><author><style face="normal" font="default" size="100%">Paternoster, Lavinia</style></author><author><style face="normal" font="default" size="100%">Rayner, Nigel W</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia</style></author><author><style face="normal" font="default" size="100%">Scott, William R</style></author><author><style face="normal" font="default" size="100%">Shihab, Hashem A</style></author><author><style face="normal" font="default" size="100%">Southam, Lorraine</style></author><author><style face="normal" font="default" size="100%">St Pourcain, Beate</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Trajanoska, Katerina</style></author><author><style face="normal" font="default" size="100%">Zaza, Gialuigi</style></author><author><style face="normal" font="default" size="100%">Zhang, Weihua</style></author><author><style face="normal" font="default" size="100%">Artigas, María S</style></author><author><style face="normal" font="default" size="100%">Bansal, Narinder</style></author><author><style face="normal" font="default" size="100%">Benn, Marianne</style></author><author><style face="normal" font="default" size="100%">Chen, Zhongsheng</style></author><author><style face="normal" font="default" size="100%">Danecek, Petr</style></author><author><style face="normal" font="default" size="100%">Lin, Wei-Yu</style></author><author><style face="normal" font="default" size="100%">Locke, Adam</style></author><author><style face="normal" font="default" size="100%">Luan, Jian'an</style></author><author><style face="normal" font="default" size="100%">Manning, Alisa K</style></author><author><style face="normal" font="default" size="100%">Mulas, Antonella</style></author><author><style face="normal" font="default" size="100%">Sidore, Carlo</style></author><author><style face="normal" font="default" size="100%">Tybjaerg-Hansen, Anne</style></author><author><style face="normal" font="default" size="100%">Varbo, Anette</style></author><author><style face="normal" font="default" size="100%">Zoledziewska, Magdalena</style></author><author><style face="normal" font="default" size="100%">Finan, Chris</style></author><author><style face="normal" font="default" size="100%">Hatzikotoulas, Konstantinos</style></author><author><style face="normal" font="default" size="100%">Hendricks, Audrey E</style></author><author><style face="normal" font="default" size="100%">Kemp, John P</style></author><author><style face="normal" font="default" size="100%">Moayyeri, Alireza</style></author><author><style face="normal" font="default" size="100%">Panoutsopoulou, Kalliope</style></author><author><style face="normal" font="default" size="100%">Szpak, Michal</style></author><author><style face="normal" font="default" size="100%">Wilson, Scott G</style></author><author><style face="normal" font="default" size="100%">Boehnke, Michael</style></author><author><style face="normal" font="default" size="100%">Cucca, Francesco</style></author><author><style face="normal" font="default" size="100%">Di Angelantonio, Emanuele</style></author><author><style face="normal" font="default" size="100%">Langenberg, Claudia</style></author><author><style face="normal" font="default" size="100%">Lindgren, Cecilia</style></author><author><style face="normal" font="default" size="100%">McCarthy, Mark I</style></author><author><style face="normal" font="default" size="100%">Morris, Andrew P</style></author><author><style face="normal" font="default" size="100%">Nordestgaard, Børge G</style></author><author><style face="normal" font="default" size="100%">Scott, Robert A</style></author><author><style face="normal" font="default" size="100%">Tobin, Martin D</style></author><author><style face="normal" font="default" size="100%">Wareham, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Burton, Paul</style></author><author><style face="normal" font="default" size="100%">Chambers, John C</style></author><author><style face="normal" font="default" size="100%">Smith, George Davey</style></author><author><style face="normal" font="default" size="100%">Dedoussis, George</style></author><author><style face="normal" font="default" size="100%">Felix, Janine F</style></author><author><style face="normal" font="default" size="100%">Franco, Oscar H</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%">Hammond, Christopher J</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Jaddoe, Vincent W V</style></author><author><style face="normal" font="default" size="100%">Kleber, Marcus</style></author><author><style face="normal" font="default" size="100%">Kooner, Jaspal S</style></author><author><style face="normal" font="default" size="100%">Perola, Markus</style></author><author><style face="normal" font="default" size="100%">Relton, Caroline</style></author><author><style face="normal" font="default" size="100%">Ring, Susan M</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Salomaa, Veikko</style></author><author><style face="normal" font="default" size="100%">Spector, Timothy D</style></author><author><style face="normal" font="default" size="100%">Stegle, Oliver</style></author><author><style face="normal" font="default" size="100%">Toniolo, Daniela</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Barroso, Inês</style></author><author><style face="normal" font="default" size="100%">Greenwood, Celia M T</style></author><author><style face="normal" font="default" size="100%">Perry, John R B</style></author><author><style face="normal" font="default" size="100%">Walker, Brian R</style></author><author><style face="normal" font="default" size="100%">Butterworth, Adam S</style></author><author><style face="normal" font="default" size="100%">Xue, Yali</style></author><author><style face="normal" font="default" size="100%">Durbin, Richard</style></author><author><style face="normal" font="default" size="100%">Small, Kerrin S</style></author><author><style face="normal" font="default" size="100%">Soranzo, Nicole</style></author><author><style face="normal" font="default" size="100%">Timpson, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Zeggini, Eleftheria</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">SpiroMeta Consortium</style></author><author><style face="normal" font="default" size="100%">GoT2D Consortium</style></author><author><style face="normal" font="default" size="100%">arcOGEN Consortium</style></author><author><style face="normal" font="default" size="100%">Understanding Society Scientific group</style></author><author><style face="normal" font="default" size="100%">UK10K Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.</style></title><secondary-title><style face="normal" font="default" size="100%">Am J Hum Genet</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Am. J. Hum. Genet.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Anthropometry</style></keyword><keyword><style  face="normal" font="default" size="100%">Body Height</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Databases, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Methylation</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</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%">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%">Lipodystrophy</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Meta-Analysis as Topic</style></keyword><keyword><style  face="normal" font="default" size="100%">Obesity</style></keyword><keyword><style  face="normal" font="default" size="100%">Physical Chromosome Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Characteristics</style></keyword><keyword><style  face="normal" font="default" size="100%">Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">United Kingdom</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 01</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">100</style></volume><pages><style face="normal" font="default" size="100%">865-884</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) and deep imputation approach to examine the broader allelic architecture of 12 anthropometric traits associated with height, body mass, and fat distribution in up to 267,616 individuals. We report 106 genome-wide significant signals that have not been previously identified, including 9 low-frequency variants pointing to functional candidates. Of the 106 signals, 6 are in genomic regions that have not been implicated with related traits before, 28 are independent signals at previously reported regions, and 72 represent previously reported signals for a different anthropometric trait. 71% of signals reside within genes and fine mapping resolves 23 signals to one or two likely causal variants. We confirm genetic overlap between human monogenic and polygenic anthropometric traits and find signal enrichment in cis expression QTLs in relevant tissues. Our results highlight the potential of WGS strategies to enhance biologically relevant discoveries across the frequency spectrum.&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/28552196?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 Pina</style></author><author><style face="normal" font="default" size="100%">Franceschini, Nora</style></author><author><style face="normal" font="default" size="100%">Enroth, Stefan</style></author><author><style face="normal" font="default" size="100%">Vitart, Veronique</style></author><author><style face="normal" font="default" size="100%">Trompet, Stella</style></author><author><style face="normal" font="default" size="100%">Guo, Xiuqing</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">O'Connel, Jeffrey R</style></author><author><style face="normal" font="default" size="100%">Corre, Tanguy</style></author><author><style face="normal" font="default" size="100%">Nongmaithem, Suraj S</style></author><author><style face="normal" font="default" size="100%">Chen, Yuning</style></author><author><style face="normal" font="default" size="100%">Mangino, Massimo</style></author><author><style face="normal" font="default" size="100%">Ruggiero, Daniela</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Farmaki, Aliki-Eleni</style></author><author><style face="normal" font="default" size="100%">Kacprowski, Tim</style></author><author><style face="normal" font="default" size="100%">Bjonnes, Andrew</style></author><author><style face="normal" font="default" size="100%">van der Spek, Ashley</style></author><author><style face="normal" font="default" size="100%">Wu, Ying</style></author><author><style face="normal" font="default" size="100%">Giri, Anil K</style></author><author><style face="normal" font="default" size="100%">Yanek, Lisa R</style></author><author><style face="normal" font="default" size="100%">Wang, Lihua</style></author><author><style face="normal" font="default" size="100%">Hofer, Edith</style></author><author><style face="normal" font="default" size="100%">Rietveld, Cornelius A</style></author><author><style face="normal" font="default" size="100%">McLeod, Olga</style></author><author><style face="normal" font="default" size="100%">Cornelis, Marilyn C</style></author><author><style face="normal" font="default" size="100%">Pattaro, Cristian</style></author><author><style face="normal" font="default" size="100%">Verweij, Niek</style></author><author><style face="normal" font="default" size="100%">Baumbach, Clemens</style></author><author><style face="normal" font="default" size="100%">Abdellaoui, Abdel</style></author><author><style face="normal" font="default" size="100%">Warren, Helen R</style></author><author><style face="normal" font="default" size="100%">Vuckovic, Dragana</style></author><author><style face="normal" font="default" size="100%">Mei, Hao</style></author><author><style face="normal" font="default" size="100%">Bouchard, Claude</style></author><author><style face="normal" font="default" size="100%">Perry, John R B</style></author><author><style face="normal" font="default" size="100%">Cappellani, Stefania</style></author><author><style face="normal" font="default" size="100%">Mirza, Saira S</style></author><author><style face="normal" font="default" size="100%">Benton, Miles C</style></author><author><style face="normal" font="default" size="100%">Broeckel, Ulrich</style></author><author><style face="normal" font="default" size="100%">Medland, Sarah E</style></author><author><style face="normal" font="default" size="100%">Lind, Penelope A</style></author><author><style face="normal" font="default" size="100%">Malerba, Giovanni</style></author><author><style face="normal" font="default" size="100%">Drong, Alexander</style></author><author><style face="normal" font="default" size="100%">Yengo, Loic</style></author><author><style face="normal" font="default" size="100%">Bielak, Lawrence F</style></author><author><style face="normal" font="default" size="100%">Zhi, Degui</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%">Shriner, Daniel</style></author><author><style face="normal" font="default" size="100%">Mägi, Reedik</style></author><author><style face="normal" font="default" size="100%">Hemani, Gibran</style></author><author><style face="normal" font="default" size="100%">Karaderi, Tugce</style></author><author><style face="normal" font="default" size="100%">Wang, Zhaoming</style></author><author><style face="normal" font="default" size="100%">Liu, Tian</style></author><author><style face="normal" font="default" size="100%">Demuth, Ilja</style></author><author><style face="normal" font="default" size="100%">Zhao, Jing Hua</style></author><author><style face="normal" font="default" size="100%">Meng, Weihua</style></author><author><style face="normal" font="default" size="100%">Lataniotis, Lazaros</style></author><author><style face="normal" font="default" size="100%">van der Laan, Sander W</style></author><author><style face="normal" font="default" size="100%">Bradfield, Jonathan P</style></author><author><style face="normal" font="default" size="100%">Wood, Andrew R</style></author><author><style face="normal" font="default" size="100%">Bonnefond, Amelie</style></author><author><style face="normal" font="default" size="100%">Ahluwalia, Tarunveer S</style></author><author><style face="normal" font="default" size="100%">Hall, Leanne M</style></author><author><style face="normal" font="default" size="100%">Salvi, Erika</style></author><author><style face="normal" font="default" size="100%">Yazar, Seyhan</style></author><author><style face="normal" font="default" size="100%">Carstensen, Lisbeth</style></author><author><style face="normal" font="default" size="100%">de Haan, Hugoline G</style></author><author><style face="normal" font="default" size="100%">Abney, Mark</style></author><author><style face="normal" font="default" size="100%">Afzal, Uzma</style></author><author><style face="normal" font="default" size="100%">Allison, Matthew A</style></author><author><style face="normal" font="default" size="100%">Amin, Najaf</style></author><author><style face="normal" font="default" size="100%">Asselbergs, Folkert W</style></author><author><style face="normal" font="default" size="100%">Bakker, Stephan J L</style></author><author><style face="normal" font="default" size="100%">Barr, R Graham</style></author><author><style face="normal" font="default" size="100%">Baumeister, Sebastian E</style></author><author><style face="normal" font="default" size="100%">Benjamin, Daniel J</style></author><author><style face="normal" font="default" size="100%">Bergmann, Sven</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Bottinger, Erwin P</style></author><author><style face="normal" font="default" size="100%">Campbell, Archie</style></author><author><style face="normal" font="default" size="100%">Chakravarti, Aravinda</style></author><author><style face="normal" font="default" size="100%">Chan, Yingleong</style></author><author><style face="normal" font="default" size="100%">Chanock, Stephen J</style></author><author><style face="normal" font="default" size="100%">Chen, Constance</style></author><author><style face="normal" font="default" size="100%">Chen, Y-D Ida</style></author><author><style face="normal" font="default" size="100%">Collins, Francis S</style></author><author><style face="normal" font="default" size="100%">Connell, John</style></author><author><style face="normal" font="default" size="100%">Correa, Adolfo</style></author><author><style face="normal" font="default" size="100%">Cupples, L Adrienne</style></author><author><style face="normal" font="default" size="100%">Smith, George Davey</style></author><author><style face="normal" font="default" size="100%">Davies, Gail</style></author><author><style face="normal" font="default" size="100%">Dörr, Marcus</style></author><author><style face="normal" font="default" size="100%">Ehret, Georg</style></author><author><style face="normal" font="default" size="100%">Ellis, Stephen B</style></author><author><style face="normal" font="default" size="100%">Feenstra, Bjarke</style></author><author><style face="normal" font="default" size="100%">Feitosa, Mary F</style></author><author><style face="normal" font="default" size="100%">Ford, Ian</style></author><author><style face="normal" font="default" size="100%">Fox, Caroline S</style></author><author><style face="normal" font="default" size="100%">Frayling, Timothy M</style></author><author><style face="normal" font="default" size="100%">Friedrich, Nele</style></author><author><style face="normal" font="default" size="100%">Geller, Frank</style></author><author><style face="normal" font="default" size="100%">Scotland, Generation</style></author><author><style face="normal" font="default" size="100%">Gillham-Nasenya, Irina</style></author><author><style face="normal" font="default" size="100%">Gottesman, Omri</style></author><author><style face="normal" font="default" size="100%">Graff, Misa</style></author><author><style face="normal" font="default" size="100%">Grodstein, Francine</style></author><author><style face="normal" font="default" size="100%">Gu, Charles</style></author><author><style face="normal" font="default" size="100%">Haley, Chris</style></author><author><style face="normal" font="default" size="100%">Hammond, Christopher J</style></author><author><style face="normal" font="default" size="100%">Harris, Sarah E</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Hastie, Nicholas D</style></author><author><style face="normal" font="default" size="100%">Heard-Costa, Nancy L</style></author><author><style face="normal" font="default" size="100%">Heikkilä, Kauko</style></author><author><style face="normal" font="default" size="100%">Hocking, Lynne J</style></author><author><style face="normal" font="default" size="100%">Homuth, Georg</style></author><author><style face="normal" font="default" size="100%">Hottenga, Jouke-Jan</style></author><author><style face="normal" font="default" size="100%">Huang, Jinyan</style></author><author><style face="normal" font="default" size="100%">Huffman, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Hysi, Pirro G</style></author><author><style face="normal" font="default" size="100%">Ikram, M Arfan</style></author><author><style face="normal" font="default" size="100%">Ingelsson, Erik</style></author><author><style face="normal" font="default" size="100%">Joensuu, Anni</style></author><author><style face="normal" font="default" size="100%">Johansson, Åsa</style></author><author><style face="normal" font="default" size="100%">Jousilahti, Pekka</style></author><author><style face="normal" font="default" size="100%">Jukema, J Wouter</style></author><author><style face="normal" font="default" size="100%">Kähönen, Mika</style></author><author><style face="normal" font="default" size="100%">Kamatani, Yoichiro</style></author><author><style face="normal" font="default" size="100%">Kanoni, Stavroula</style></author><author><style face="normal" font="default" size="100%">Kerr, Shona M</style></author><author><style face="normal" font="default" size="100%">Khan, Nazir M</style></author><author><style face="normal" font="default" size="100%">Koellinger, Philipp</style></author><author><style face="normal" font="default" size="100%">Koistinen, Heikki A</style></author><author><style face="normal" font="default" size="100%">Kooner, Manraj K</style></author><author><style face="normal" font="default" size="100%">Kubo, Michiaki</style></author><author><style face="normal" font="default" size="100%">Kuusisto, Johanna</style></author><author><style face="normal" font="default" size="100%">Lahti, Jari</style></author><author><style face="normal" font="default" size="100%">Launer, Lenore J</style></author><author><style face="normal" font="default" size="100%">Lea, Rodney A</style></author><author><style face="normal" font="default" size="100%">Lehne, Benjamin</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Liewald, David C M</style></author><author><style face="normal" font="default" size="100%">Lind, Lars</style></author><author><style face="normal" font="default" size="100%">Loh, Marie</style></author><author><style face="normal" font="default" size="100%">Lokki, Marja-Liisa</style></author><author><style face="normal" font="default" size="100%">London, Stephanie J</style></author><author><style face="normal" font="default" size="100%">Loomis, Stephanie J</style></author><author><style face="normal" font="default" size="100%">Loukola, Anu</style></author><author><style face="normal" font="default" size="100%">Lu, Yingchang</style></author><author><style face="normal" font="default" size="100%">Lumley, Thomas</style></author><author><style face="normal" font="default" size="100%">Lundqvist, Annamari</style></author><author><style face="normal" font="default" size="100%">Männistö, Satu</style></author><author><style face="normal" font="default" size="100%">Marques-Vidal, Pedro</style></author><author><style face="normal" font="default" size="100%">Masciullo, Corrado</style></author><author><style face="normal" font="default" size="100%">Matchan, Angela</style></author><author><style face="normal" font="default" size="100%">Mathias, Rasika A</style></author><author><style face="normal" font="default" size="100%">Matsuda, Koichi</style></author><author><style face="normal" font="default" size="100%">Meigs, James B</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%">Mentch, Frank D</style></author><author><style face="normal" font="default" size="100%">Mihailov, Evelin</style></author><author><style face="normal" font="default" size="100%">Milani, Lili</style></author><author><style face="normal" font="default" size="100%">Montasser, May E</style></author><author><style face="normal" font="default" size="100%">Montgomery, Grant W</style></author><author><style face="normal" font="default" size="100%">Morrison, Alanna</style></author><author><style face="normal" font="default" size="100%">Myers, Richard H</style></author><author><style face="normal" font="default" size="100%">Nadukuru, Rajiv</style></author><author><style face="normal" font="default" size="100%">Navarro, Pau</style></author><author><style face="normal" font="default" size="100%">Nelis, Mari</style></author><author><style face="normal" font="default" size="100%">Nieminen, Markku S</style></author><author><style face="normal" font="default" size="100%">Nolte, Ilja M</style></author><author><style face="normal" font="default" size="100%">O'Connor, George T</style></author><author><style face="normal" font="default" size="100%">Ogunniyi, Adesola</style></author><author><style face="normal" font="default" size="100%">Padmanabhan, Sandosh</style></author><author><style face="normal" font="default" size="100%">Palmas, Walter R</style></author><author><style face="normal" font="default" size="100%">Pankow, James S</style></author><author><style face="normal" font="default" size="100%">Patarcic, Inga</style></author><author><style face="normal" font="default" size="100%">Pavani, Francesca</style></author><author><style face="normal" font="default" size="100%">Peyser, Patricia A</style></author><author><style face="normal" font="default" size="100%">Pietilainen, Kirsi</style></author><author><style face="normal" font="default" size="100%">Poulter, Neil</style></author><author><style face="normal" font="default" size="100%">Prokopenko, Inga</style></author><author><style face="normal" font="default" size="100%">Ralhan, Sarju</style></author><author><style face="normal" font="default" size="100%">Redmond, Paul</style></author><author><style face="normal" font="default" size="100%">Rich, Stephen S</style></author><author><style face="normal" font="default" size="100%">Rissanen, Harri</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Rose, Lynda M</style></author><author><style face="normal" font="default" size="100%">Rose, Richard</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia</style></author><author><style face="normal" font="default" size="100%">Salako, Babatunde</style></author><author><style face="normal" font="default" size="100%">Salomaa, Veikko</style></author><author><style face="normal" font="default" size="100%">Sarin, Antti-Pekka</style></author><author><style face="normal" font="default" size="100%">Saxena, Richa</style></author><author><style face="normal" font="default" size="100%">Schmidt, Helena</style></author><author><style face="normal" font="default" size="100%">Scott, Laura J</style></author><author><style face="normal" font="default" size="100%">Scott, William R</style></author><author><style face="normal" font="default" size="100%">Sennblad, Bengt</style></author><author><style face="normal" font="default" size="100%">Seshadri, Sudha</style></author><author><style face="normal" font="default" size="100%">Sever, Peter</style></author><author><style face="normal" font="default" size="100%">Shrestha, Smeeta</style></author><author><style face="normal" font="default" size="100%">Smith, Blair H</style></author><author><style face="normal" font="default" size="100%">Smith, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Soranzo, Nicole</style></author><author><style face="normal" font="default" size="100%">Sotoodehnia, Nona</style></author><author><style face="normal" font="default" size="100%">Southam, Lorraine</style></author><author><style face="normal" font="default" size="100%">Stanton, Alice V</style></author><author><style face="normal" font="default" size="100%">Stathopoulou, Maria G</style></author><author><style face="normal" font="default" size="100%">Strauch, Konstantin</style></author><author><style face="normal" font="default" size="100%">Strawbridge, Rona J</style></author><author><style face="normal" font="default" size="100%">Suderman, Matthew J</style></author><author><style face="normal" font="default" size="100%">Tandon, Nikhil</style></author><author><style face="normal" font="default" size="100%">Tang, Sian-Tsun</style></author><author><style face="normal" font="default" size="100%">Taylor, Kent D</style></author><author><style face="normal" font="default" size="100%">Tayo, Bamidele O</style></author><author><style face="normal" font="default" size="100%">Töglhofer, Anna Maria</style></author><author><style face="normal" font="default" size="100%">Tomaszewski, Maciej</style></author><author><style face="normal" font="default" size="100%">Tšernikova, Natalia</style></author><author><style face="normal" font="default" size="100%">Tuomilehto, Jaakko</style></author><author><style face="normal" font="default" size="100%">Uitterlinden, André G</style></author><author><style face="normal" font="default" size="100%">Vaidya, Dhananjay</style></author><author><style face="normal" font="default" size="100%">van Hylckama Vlieg, Astrid</style></author><author><style face="normal" font="default" size="100%">van Setten, Jessica</style></author><author><style face="normal" font="default" size="100%">Vasankari, Tuula</style></author><author><style face="normal" font="default" size="100%">Vedantam, Sailaja</style></author><author><style face="normal" font="default" size="100%">Vlachopoulou, Efthymia</style></author><author><style face="normal" font="default" size="100%">Vozzi, Diego</style></author><author><style face="normal" font="default" size="100%">Vuoksimaa, Eero</style></author><author><style face="normal" font="default" size="100%">Waldenberger, Melanie</style></author><author><style face="normal" font="default" size="100%">Ware, Erin B</style></author><author><style face="normal" font="default" size="100%">Wentworth-Shields, William</style></author><author><style face="normal" font="default" size="100%">Whitfield, John B</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%">Yajnik, Chittaranjan S</style></author><author><style face="normal" font="default" size="100%">Yao, Jie</style></author><author><style face="normal" font="default" size="100%">Zaza, Gianluigi</style></author><author><style face="normal" font="default" size="100%">Zhu, Xiaofeng</style></author><author><style face="normal" font="default" size="100%">Salem, Rany M</style></author><author><style face="normal" font="default" size="100%">Melbye, Mads</style></author><author><style face="normal" font="default" size="100%">Bisgaard, Hans</style></author><author><style face="normal" font="default" size="100%">Samani, Nilesh J</style></author><author><style face="normal" font="default" size="100%">Cusi, Daniele</style></author><author><style face="normal" font="default" size="100%">Mackey, David A</style></author><author><style face="normal" font="default" size="100%">Cooper, Richard S</style></author><author><style face="normal" font="default" size="100%">Froguel, Philippe</style></author><author><style face="normal" font="default" size="100%">Pasterkamp, Gerard</style></author><author><style face="normal" font="default" size="100%">Grant, Struan F A</style></author><author><style face="normal" font="default" size="100%">Hakonarson, Hakon</style></author><author><style face="normal" font="default" size="100%">Ferrucci, Luigi</style></author><author><style face="normal" font="default" size="100%">Scott, Robert A</style></author><author><style face="normal" font="default" size="100%">Morris, Andrew D</style></author><author><style face="normal" font="default" size="100%">Palmer, Colin N A</style></author><author><style face="normal" font="default" size="100%">Dedoussis, George</style></author><author><style face="normal" font="default" size="100%">Deloukas, Panos</style></author><author><style face="normal" font="default" size="100%">Bertram, Lars</style></author><author><style face="normal" font="default" size="100%">Lindenberger, Ulman</style></author><author><style face="normal" font="default" size="100%">Berndt, Sonja I</style></author><author><style face="normal" font="default" size="100%">Lindgren, Cecilia M</style></author><author><style face="normal" font="default" size="100%">Timpson, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Tönjes, Anke</style></author><author><style face="normal" font="default" size="100%">Munroe, Patricia B</style></author><author><style face="normal" font="default" size="100%">Sørensen, Thorkild I A</style></author><author><style face="normal" font="default" size="100%">Rotimi, Charles N</style></author><author><style face="normal" font="default" size="100%">Arnett, Donna K</style></author><author><style face="normal" font="default" size="100%">Oldehinkel, Albertine J</style></author><author><style face="normal" font="default" size="100%">Kardia, Sharon L R</style></author><author><style face="normal" font="default" size="100%">Balkau, Beverley</style></author><author><style face="normal" font="default" size="100%">Gambaro, Giovanni</style></author><author><style face="normal" font="default" size="100%">Morris, Andrew P</style></author><author><style face="normal" font="default" size="100%">Eriksson, Johan G</style></author><author><style face="normal" font="default" size="100%">Wright, Margie J</style></author><author><style face="normal" font="default" size="100%">Martin, Nicholas G</style></author><author><style face="normal" font="default" size="100%">Hunt, Steven C</style></author><author><style face="normal" font="default" size="100%">Starr, John M</style></author><author><style face="normal" font="default" size="100%">Deary, Ian J</style></author><author><style face="normal" font="default" size="100%">Griffiths, Lyn R</style></author><author><style face="normal" font="default" size="100%">Tiemeier, Henning</style></author><author><style face="normal" font="default" size="100%">Pirastu, Nicola</style></author><author><style face="normal" font="default" size="100%">Kaprio, Jaakko</style></author><author><style face="normal" font="default" size="100%">Wareham, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Pérusse, Louis</style></author><author><style face="normal" font="default" size="100%">Wilson, James G</style></author><author><style face="normal" font="default" size="100%">Girotto, Giorgia</style></author><author><style face="normal" font="default" size="100%">Caulfield, Mark J</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli</style></author><author><style face="normal" font="default" size="100%">Boomsma, Dorret I</style></author><author><style face="normal" font="default" size="100%">Gieger, Christian</style></author><author><style face="normal" font="default" size="100%">van der Harst, Pim</style></author><author><style face="normal" font="default" size="100%">Hicks, Andrew A</style></author><author><style face="normal" font="default" size="100%">Kraft, Peter</style></author><author><style face="normal" font="default" size="100%">Sinisalo, Juha</style></author><author><style face="normal" font="default" size="100%">Knekt, Paul</style></author><author><style face="normal" font="default" size="100%">Johannesson, Magnus</style></author><author><style face="normal" font="default" size="100%">Magnusson, Patrik K E</style></author><author><style face="normal" font="default" size="100%">Hamsten, Anders</style></author><author><style face="normal" font="default" size="100%">Schmidt, Reinhold</style></author><author><style face="normal" font="default" size="100%">Borecki, Ingrid B</style></author><author><style face="normal" font="default" size="100%">Vartiainen, 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>