<?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%">Lee, James J</style></author><author><style face="normal" font="default" size="100%">Wedow, Robbee</style></author><author><style face="normal" font="default" size="100%">Okbay, Aysu</style></author><author><style face="normal" font="default" size="100%">Kong, Edward</style></author><author><style face="normal" font="default" size="100%">Maghzian, Omeed</style></author><author><style face="normal" font="default" size="100%">Zacher, Meghan</style></author><author><style face="normal" font="default" size="100%">Nguyen-Viet, Tuan Anh</style></author><author><style face="normal" font="default" size="100%">Bowers, Peter</style></author><author><style face="normal" font="default" size="100%">Sidorenko, Julia</style></author><author><style face="normal" font="default" size="100%">Karlsson Linnér, Richard</style></author><author><style face="normal" font="default" size="100%">Fontana, Mark Alan</style></author><author><style face="normal" font="default" size="100%">Kundu, Tushar</style></author><author><style face="normal" font="default" size="100%">Lee, Chanwook</style></author><author><style face="normal" font="default" size="100%">Li, Hui</style></author><author><style face="normal" font="default" size="100%">Li, Ruoxi</style></author><author><style face="normal" font="default" size="100%">Royer, Rebecca</style></author><author><style face="normal" font="default" size="100%">Timshel, Pascal N</style></author><author><style face="normal" font="default" size="100%">Walters, Raymond K</style></author><author><style face="normal" font="default" size="100%">Willoughby, Emily A</style></author><author><style face="normal" font="default" size="100%">Yengo, Loic</style></author><author><style face="normal" font="default" size="100%">Alver, Maris</style></author><author><style face="normal" font="default" size="100%">Bao, Yanchun</style></author><author><style face="normal" font="default" size="100%">Clark, David W</style></author><author><style face="normal" font="default" size="100%">Day, Felix R</style></author><author><style face="normal" font="default" size="100%">Furlotte, Nicholas A</style></author><author><style face="normal" font="default" size="100%">Joshi, Peter K</style></author><author><style face="normal" font="default" size="100%">Kemper, Kathryn E</style></author><author><style face="normal" font="default" size="100%">Kleinman, Aaron</style></author><author><style face="normal" font="default" size="100%">Langenberg, Claudia</style></author><author><style face="normal" font="default" size="100%">Mägi, Reedik</style></author><author><style face="normal" font="default" size="100%">Trampush, Joey W</style></author><author><style face="normal" font="default" size="100%">Verma, Shefali Setia</style></author><author><style face="normal" font="default" size="100%">Wu, Yang</style></author><author><style face="normal" font="default" size="100%">Lam, Max</style></author><author><style face="normal" font="default" size="100%">Zhao, Jing Hua</style></author><author><style face="normal" font="default" size="100%">Zheng, Zhili</style></author><author><style face="normal" font="default" size="100%">Boardman, Jason D</style></author><author><style face="normal" font="default" size="100%">Campbell, Harry</style></author><author><style face="normal" font="default" size="100%">Freese, Jeremy</style></author><author><style face="normal" font="default" size="100%">Harris, Kathleen Mullan</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Herd, Pamela</style></author><author><style face="normal" font="default" size="100%">Kumari, Meena</style></author><author><style face="normal" font="default" size="100%">Lencz, Todd</style></author><author><style face="normal" font="default" size="100%">Luan, Jian'an</style></author><author><style face="normal" font="default" size="100%">Malhotra, Anil K</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Milani, Lili</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><author><style face="normal" font="default" size="100%">Porteous, David J</style></author><author><style face="normal" font="default" size="100%">Ritchie, Marylyn D</style></author><author><style face="normal" font="default" size="100%">Smart, Melissa C</style></author><author><style face="normal" font="default" size="100%">Smith, Blair H</style></author><author><style face="normal" font="default" size="100%">Tung, Joyce Y</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%">Beauchamp, Jonathan P</style></author><author><style face="normal" font="default" size="100%">Conley, Dalton C</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Lehrer, Steven F</style></author><author><style face="normal" font="default" size="100%">Magnusson, Patrik K E</style></author><author><style face="normal" font="default" size="100%">Oskarsson, Sven</style></author><author><style face="normal" font="default" size="100%">Pers, Tune H</style></author><author><style face="normal" font="default" size="100%">Robinson, Matthew R</style></author><author><style face="normal" font="default" size="100%">Thom, Kevin</style></author><author><style face="normal" font="default" size="100%">Watson, Chelsea</style></author><author><style face="normal" font="default" size="100%">Chabris, Christopher F</style></author><author><style face="normal" font="default" size="100%">Meyer, Michelle N</style></author><author><style face="normal" font="default" size="100%">Laibson, David I</style></author><author><style face="normal" font="default" size="100%">Yang, Jian</style></author><author><style face="normal" font="default" size="100%">Johannesson, Magnus</style></author><author><style face="normal" font="default" size="100%">Koellinger, Philipp D</style></author><author><style face="normal" font="default" size="100%">Turley, Patrick</style></author><author><style face="normal" font="default" size="100%">Visscher, Peter M</style></author><author><style face="normal" font="default" size="100%">Benjamin, Daniel J</style></author><author><style face="normal" font="default" size="100%">Cesarini, David</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">23andMe Research Team</style></author><author><style face="normal" font="default" size="100%">COGENT (Cognitive Genomics Consortium)</style></author><author><style face="normal" font="default" size="100%">Social Science Genetic Association Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.</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 Aug</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">50</style></volume><pages><style face="normal" font="default" size="100%">1112-1121</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1 million individuals and identify 1,271 independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The SNPs implicate genes involved in brain-development processes and neuron-to-neuron communication. In a separate analysis of the X chromosome, we identify 10 independent genome-wide-significant SNPs and estimate a SNP heritability of around 0.3% in both men and women, consistent with partial dosage compensation. A joint (multi-phenotype) analysis of educational attainment and three related cognitive phenotypes generates polygenic scores that explain 11-13% of the variance in educational attainment and 7-10% of the variance in cognitive performance. This prediction accuracy substantially increases the utility of polygenic scores as tools in research.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">8</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/30038396?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 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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%">Locke, Adam E</style></author><author><style face="normal" font="default" size="100%">Kahali, Bratati</style></author><author><style face="normal" font="default" size="100%">Berndt, Sonja I</style></author><author><style face="normal" font="default" size="100%">Justice, Anne E</style></author><author><style face="normal" font="default" size="100%">Pers, Tune H</style></author><author><style face="normal" font="default" 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Panos</style></author><author><style face="normal" font="default" size="100%">Fox, Caroline S</style></author><author><style face="normal" font="default" size="100%">Heid, Iris M</style></author><author><style face="normal" font="default" size="100%">O'Connell, Jeffrey R</style></author><author><style face="normal" font="default" size="100%">Strachan, David P</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Abecasis, Goncalo R</style></author><author><style face="normal" font="default" size="100%">Franke, Lude</style></author><author><style face="normal" font="default" size="100%">Frayling, Timothy M</style></author><author><style face="normal" font="default" size="100%">McCarthy, Mark I</style></author><author><style face="normal" font="default" size="100%">Visscher, Peter M</style></author><author><style face="normal" font="default" size="100%">Scherag, André</style></author><author><style face="normal" font="default" size="100%">Willer, Cristen J</style></author><author><style face="normal" font="default" size="100%">Boehnke, Michael</style></author><author><style face="normal" font="default" size="100%">Mohlke, Karen L</style></author><author><style face="normal" font="default" size="100%">Lindgren, Cecilia M</style></author><author><style face="normal" font="default" size="100%">Beckmann, Jacques S</style></author><author><style face="normal" font="default" size="100%">Barroso, Inês</style></author><author><style face="normal" font="default" size="100%">North, Kari E</style></author><author><style face="normal" font="default" size="100%">Ingelsson, Erik</style></author><author><style face="normal" font="default" size="100%">Hirschhorn, Joel N</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Speliotes, Elizabeth K</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%">ADIPOGen Consortium</style></author><author><style face="normal" font="default" size="100%">AGEN-BMI Working Group</style></author><author><style face="normal" font="default" size="100%">CARDIOGRAMplusC4D Consortium</style></author><author><style face="normal" font="default" size="100%">CKDGen consortium</style></author><author><style face="normal" font="default" size="100%">GLGC</style></author><author><style face="normal" font="default" size="100%">ICBP</style></author><author><style face="normal" font="default" size="100%">MAGIC Investigators</style></author><author><style face="normal" font="default" size="100%">MuTHER Consortium</style></author><author><style face="normal" font="default" size="100%">MIGen Consortium</style></author><author><style face="normal" font="default" size="100%">PAGE Consortium</style></author><author><style face="normal" font="default" size="100%">ReproGen Consortium</style></author><author><style face="normal" font="default" size="100%">GENIE Consortium</style></author><author><style face="normal" font="default" size="100%">International Endogene Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Genetic studies of body mass index yield new insights for obesity biology.</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%">Adipogenesis</style></keyword><keyword><style  face="normal" font="default" size="100%">Adiposity</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%">Continental Population Groups</style></keyword><keyword><style  face="normal" font="default" size="100%">Energy Metabolism</style></keyword><keyword><style  face="normal" font="default" size="100%">Europe</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%">Glutamic Acid</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Insulin</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Obesity</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Synapses</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 Feb 12</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">518</style></volume><pages><style face="normal" font="default" size="100%">197-206</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P &lt; 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for &gt;20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">7538</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25673413?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%">Ruth, Katherine S</style></author><author><style face="normal" font="default" size="100%">Thompson, Deborah J</style></author><author><style face="normal" font="default" size="100%">Lunetta, Kathryn L</style></author><author><style face="normal" font="default" size="100%">Pervjakova, Natalia</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">Stolk, Lisette</style></author><author><style face="normal" font="default" size="100%">Finucane, Hilary K</style></author><author><style face="normal" font="default" size="100%">Sulem, Patrick</style></author><author><style face="normal" font="default" size="100%">Bulik-Sullivan, Brendan</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Johnson, Andrew D</style></author><author><style face="normal" font="default" size="100%">Elks, Cathy E</style></author><author><style face="normal" font="default" size="100%">Franceschini, Nora</style></author><author><style face="normal" font="default" size="100%">He, Chunyan</style></author><author><style face="normal" font="default" size="100%">Altmaier, Elisabeth</style></author><author><style face="normal" font="default" size="100%">Brody, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Franke, Lude L</style></author><author><style face="normal" font="default" size="100%">Huffman, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Keller, Margaux F</style></author><author><style face="normal" font="default" size="100%">McArdle, Patrick F</style></author><author><style face="normal" font="default" size="100%">Nutile, Teresa</style></author><author><style face="normal" font="default" size="100%">Porcu, Eleonora</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%">Schick, Ursula M</style></author><author><style face="normal" font="default" size="100%">Smith, Jennifer A</style></author><author><style face="normal" font="default" size="100%">Teumer, Alexander</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Vuckovic, Dragana</style></author><author><style face="normal" font="default" size="100%">Yao, Jie</style></author><author><style face="normal" font="default" size="100%">Zhao, Wei</style></author><author><style face="normal" font="default" size="100%">Albrecht, Eva</style></author><author><style face="normal" font="default" size="100%">Amin, Najaf</style></author><author><style face="normal" font="default" size="100%">Corre, Tanguy</style></author><author><style face="normal" font="default" size="100%">Hottenga, Jouke-Jan</style></author><author><style face="normal" font="default" size="100%">Mangino, Massimo</style></author><author><style face="normal" font="default" size="100%">Smith, Albert V</style></author><author><style face="normal" font="default" size="100%">Tanaka, Toshiko</style></author><author><style face="normal" font="default" size="100%">Abecasis, Goncalo R</style></author><author><style face="normal" font="default" size="100%">Andrulis, Irene L</style></author><author><style face="normal" font="default" size="100%">Anton-Culver, Hoda</style></author><author><style face="normal" font="default" size="100%">Antoniou, Antonis C</style></author><author><style face="normal" font="default" size="100%">Arndt, Volker</style></author><author><style face="normal" font="default" size="100%">Arnold, Alice M</style></author><author><style face="normal" font="default" size="100%">Barbieri, Caterina</style></author><author><style face="normal" font="default" size="100%">Beckmann, Matthias W</style></author><author><style face="normal" font="default" size="100%">Beeghly-Fadiel, Alicia</style></author><author><style face="normal" font="default" size="100%">Benitez, Javier</style></author><author><style face="normal" font="default" size="100%">Bernstein, Leslie</style></author><author><style face="normal" font="default" size="100%">Bielinski, Suzette J</style></author><author><style face="normal" font="default" size="100%">Blomqvist, Carl</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Bogdanova, Natalia V</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%">Borresen-Dale, Anne-Lise</style></author><author><style face="normal" font="default" size="100%">Boutin, Thibaud 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%">Brüning, Thomas</style></author><author><style face="normal" font="default" size="100%">Burwinkel, Barbara</style></author><author><style face="normal" font="default" size="100%">Campbell, Archie</style></author><author><style face="normal" font="default" size="100%">Campbell, Harry</style></author><author><style face="normal" font="default" size="100%">Chanock, Stephen J</style></author><author><style face="normal" font="default" size="100%">Chapman, J Ross</style></author><author><style face="normal" font="default" size="100%">Chen, Yii-Der Ida</style></author><author><style face="normal" font="default" size="100%">Chenevix-Trench, Georgia</style></author><author><style face="normal" font="default" size="100%">Couch, Fergus J</style></author><author><style face="normal" font="default" size="100%">Coviello, Andrea D</style></author><author><style face="normal" font="default" size="100%">Cox, Angela</style></author><author><style face="normal" font="default" size="100%">Czene, Kamila</style></author><author><style face="normal" font="default" size="100%">Darabi, Hatef</style></author><author><style face="normal" font="default" size="100%">De Vivo, Immaculata</style></author><author><style face="normal" font="default" size="100%">Demerath, Ellen W</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%">Dörk, Thilo</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%">Eicher, John D</style></author><author><style face="normal" font="default" size="100%">Fasching, Peter A</style></author><author><style face="normal" font="default" size="100%">Faul, Jessica D</style></author><author><style face="normal" font="default" size="100%">Figueroa, Jonine</style></author><author><style face="normal" font="default" size="100%">Flesch-Janys, Dieter</style></author><author><style face="normal" font="default" size="100%">Gandin, Ilaria</style></author><author><style face="normal" font="default" size="100%">Garcia, Melissa E</style></author><author><style face="normal" font="default" size="100%">García-Closas, Montserrat</style></author><author><style face="normal" font="default" size="100%">Giles, Graham G</style></author><author><style face="normal" font="default" size="100%">Girotto, Giorgia G</style></author><author><style face="normal" font="default" size="100%">Goldberg, Mark S</style></author><author><style face="normal" font="default" size="100%">González-Neira, Anna</style></author><author><style face="normal" font="default" size="100%">Goodarzi, Mark O</style></author><author><style face="normal" font="default" size="100%">Grove, Megan L</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%">Guo, Xiuqing</style></author><author><style face="normal" font="default" size="100%">Haiman, Christopher A</style></author><author><style face="normal" font="default" size="100%">Hall, Per</style></author><author><style face="normal" font="default" size="100%">Hamann, Ute</style></author><author><style face="normal" font="default" size="100%">Henderson, Brian E</style></author><author><style face="normal" font="default" size="100%">Hocking, Lynne J</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Homuth, Georg</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 B</style></author><author><style face="normal" font="default" size="100%">Huang, Jinyan</style></author><author><style face="normal" font="default" size="100%">Humphreys, Keith</style></author><author><style face="normal" font="default" size="100%">Hunter, David J</style></author><author><style face="normal" font="default" size="100%">Jakubowska, Anna</style></author><author><style face="normal" font="default" size="100%">Jones, Samuel E</style></author><author><style face="normal" font="default" size="100%">Kabisch, Maria</style></author><author><style face="normal" font="default" size="100%">Karasik, David</style></author><author><style face="normal" font="default" size="100%">Knight, Julia A</style></author><author><style face="normal" font="default" size="100%">Kolcic, Ivana</style></author><author><style face="normal" font="default" size="100%">Kooperberg, Charles</style></author><author><style face="normal" font="default" size="100%">Kosma, Veli-Matti</style></author><author><style face="normal" font="default" size="100%">Kriebel, Jennifer</style></author><author><style face="normal" font="default" size="100%">Kristensen, Vessela</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%">Li, Jingmei</style></author><author><style face="normal" font="default" size="100%">Li, Xin</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%">Lubinski, Jan</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%">Manz, Judith</style></author><author><style face="normal" font="default" size="100%">Margolin, Sara</style></author><author><style face="normal" font="default" size="100%">Marten, Jonathan</style></author><author><style face="normal" font="default" size="100%">Martin, Nicholas G</style></author><author><style face="normal" font="default" size="100%">Masciullo, Corrado</style></author><author><style face="normal" font="default" size="100%">Meindl, Alfons</style></author><author><style face="normal" font="default" size="100%">Michailidou, Kyriaki</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%">Milne, Roger L</style></author><author><style face="normal" font="default" size="100%">Müller-Nurasyid, Martina</style></author><author><style face="normal" font="default" size="100%">Nalls, Michael</style></author><author><style face="normal" font="default" size="100%">Neale, Benjamin M</style></author><author><style face="normal" font="default" size="100%">Nevanlinna, Heli</style></author><author><style face="normal" font="default" size="100%">Neven, Patrick</style></author><author><style face="normal" font="default" size="100%">Newman, Anne B</style></author><author><style face="normal" font="default" size="100%">Nordestgaard, Børge G</style></author><author><style face="normal" font="default" size="100%">Olson, Janet E</style></author><author><style face="normal" font="default" size="100%">Padmanabhan, Sandosh</style></author><author><style face="normal" font="default" size="100%">Peterlongo, Paolo</style></author><author><style face="normal" font="default" size="100%">Peters, Ulrike</style></author><author><style face="normal" font="default" size="100%">Petersmann, Astrid</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%">Pirastu, Nicola N</style></author><author><style face="normal" font="default" size="100%">Pirie, Ailith</style></author><author><style face="normal" font="default" size="100%">Pistis, Giorgio</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%">Psaty, Bruce M</style></author><author><style face="normal" font="default" size="100%">Pylkäs, Katri</style></author><author><style face="normal" font="default" size="100%">Radice, Paolo</style></author><author><style face="normal" font="default" size="100%">Raffel, Leslie J</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Rudolph, Anja</style></author><author><style face="normal" font="default" size="100%">Ruggiero, Daniela</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia F</style></author><author><style face="normal" font="default" size="100%">Sanna, Serena</style></author><author><style face="normal" font="default" size="100%">Sawyer, Elinor J</style></author><author><style face="normal" font="default" size="100%">Schlessinger, David</style></author><author><style face="normal" font="default" size="100%">Schmidt, Marjanka K</style></author><author><style face="normal" font="default" size="100%">Schmidt, Frank</style></author><author><style face="normal" font="default" size="100%">Schmutzler, Rita K</style></author><author><style face="normal" font="default" size="100%">Schoemaker, Minouk J</style></author><author><style face="normal" font="default" size="100%">Scott, Robert A</style></author><author><style face="normal" font="default" size="100%">Seynaeve, Caroline M</style></author><author><style face="normal" font="default" size="100%">Simard, Jacques</style></author><author><style face="normal" font="default" size="100%">Sorice, Rossella</style></author><author><style face="normal" font="default" size="100%">Southey, Melissa C</style></author><author><style face="normal" font="default" size="100%">Stöckl, Doris</style></author><author><style face="normal" font="default" size="100%">Strauch, Konstantin</style></author><author><style face="normal" font="default" size="100%">Swerdlow, Anthony</style></author><author><style face="normal" font="default" size="100%">Taylor, Kent D</style></author><author><style face="normal" font="default" size="100%">Thorsteinsdottir, Unnur</style></author><author><style face="normal" font="default" size="100%">Toland, Amanda E</style></author><author><style face="normal" font="default" size="100%">Tomlinson, Ian</style></author><author><style face="normal" font="default" size="100%">Truong, Therese</style></author><author><style face="normal" font="default" size="100%">Tryggvadottir, Laufey</style></author><author><style face="normal" font="default" size="100%">Turner, Stephen T</style></author><author><style face="normal" font="default" size="100%">Vozzi, Diego</style></author><author><style face="normal" font="default" size="100%">Wang, Qin</style></author><author><style face="normal" font="default" size="100%">Wellons, Melissa</style></author><author><style face="normal" font="default" size="100%">Willemsen, Gonneke</style></author><author><style face="normal" font="default" size="100%">Wilson, James F</style></author><author><style face="normal" font="default" size="100%">Winqvist, Robert</style></author><author><style face="normal" font="default" size="100%">Wolffenbuttel, Bruce B H R</style></author><author><style face="normal" font="default" size="100%">Wright, Alan F</style></author><author><style face="normal" font="default" size="100%">Yannoukakos, Drakoulis</style></author><author><style face="normal" font="default" size="100%">Zemunik, Tatijana</style></author><author><style face="normal" font="default" size="100%">Zheng, Wei</style></author><author><style face="normal" font="default" size="100%">Zygmunt, Marek</style></author><author><style face="normal" font="default" size="100%">Bergmann, Sven</style></author><author><style face="normal" font="default" size="100%">Boomsma, Dorret I</style></author><author><style face="normal" font="default" size="100%">Buring, Julie E</style></author><author><style face="normal" font="default" size="100%">Ferrucci, Luigi</style></author><author><style face="normal" font="default" size="100%">Montgomery, Grant W</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Spector, Tim D</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Alizadeh, Behrooz Z</style></author><author><style face="normal" font="default" size="100%">Ciullo, Marina</style></author><author><style face="normal" font="default" size="100%">Crisponi, Laura</style></author><author><style face="normal" font="default" size="100%">Easton, Douglas F</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo P</style></author><author><style face="normal" font="default" size="100%">Gieger, Christian</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Kardia, Sharon L R</style></author><author><style face="normal" font="default" size="100%">Kraft, Peter</style></author><author><style face="normal" font="default" size="100%">McKnight, Barbara</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Morrison, Alanna C</style></author><author><style face="normal" font="default" size="100%">Reiner, Alex P</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%">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%">Ulivi, Sheila</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%">Weir, David R</style></author><author><style face="normal" font="default" size="100%">Yerges-Armstrong, Laura M</style></author><author><style face="normal" font="default" size="100%">Price, Alkes L</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Visser, Jenny A</style></author><author><style face="normal" font="default" size="100%">Ong, Ken K</style></author><author><style face="normal" font="default" size="100%">Chang-Claude, Jenny</style></author><author><style face="normal" font="default" size="100%">Murabito, Joanne M</style></author><author><style face="normal" font="default" size="100%">Perry, John R B</style></author><author><style face="normal" font="default" size="100%">Murray, Anna</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">PRACTICAL Consortium</style></author><author><style face="normal" font="default" size="100%">kConFab investigators</style></author><author><style face="normal" font="default" size="100%">AOCS Investigators</style></author><author><style face="normal" font="default" size="100%">Generation Scotland</style></author><author><style face="normal" font="default" size="100%">EPIC-InterAct Consortium</style></author><author><style face="normal" font="default" size="100%">LifeLines Cohort Study</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.</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%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Nov</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">47</style></volume><pages><style face="normal" font="default" size="100%">1294-303</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Menopause timing has a substantial impact on infertility and risk of disease, including breast cancer, but the underlying mechanisms are poorly understood. We report a dual strategy in ∼70,000 women to identify common and low-frequency protein-coding variation associated with age at natural menopause (ANM). We identified 44 regions with common variants, including two regions harboring additional rare missense alleles of large effect. We found enrichment of signals in or near genes involved in delayed puberty, highlighting the first molecular links between the onset and end of reproductive lifespan. Pathway analyses identified major association with DNA damage response (DDR) genes, including the first common coding variant in BRCA1 associated with any complex trait. Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">11</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26414677?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%">Shungin, Dmitry</style></author><author><style face="normal" font="default" size="100%">Winkler, Thomas W</style></author><author><style face="normal" font="default" size="100%">Croteau-Chonka, Damien C</style></author><author><style face="normal" font="default" size="100%">Ferreira, Teresa</style></author><author><style face="normal" font="default" 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font="default" size="100%">Chakravarti, Aravinda</style></author><author><style face="normal" font="default" size="100%">Chines, Peter S</style></author><author><style face="normal" font="default" size="100%">Claudi-Boehm, Simone</style></author><author><style face="normal" font="default" size="100%">Collins, Francis S</style></author><author><style face="normal" font="default" size="100%">Crawford, Dana C</style></author><author><style face="normal" font="default" size="100%">Danesh, John</style></author><author><style face="normal" font="default" size="100%">de Faire, Ulf</style></author><author><style face="normal" font="default" size="100%">de Geus, Eco J C</style></author><author><style face="normal" font="default" size="100%">Dörr, Marcus</style></author><author><style face="normal" font="default" size="100%">Erbel, Raimund</style></author><author><style face="normal" font="default" size="100%">Eriksson, Johan G</style></author><author><style face="normal" font="default" size="100%">Farrall, Martin</style></author><author><style face="normal" font="default" size="100%">Ferrannini, Ele</style></author><author><style face="normal" font="default" size="100%">Ferrières, Jean</style></author><author><style face="normal" font="default" size="100%">Forouhi, Nita G</style></author><author><style face="normal" font="default" size="100%">Forrester, Terrence</style></author><author><style face="normal" font="default" size="100%">Franco, Oscar H</style></author><author><style face="normal" font="default" size="100%">Gansevoort, Ron T</style></author><author><style face="normal" font="default" size="100%">Gieger, Christian</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Haiman, Christopher A</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Hattersley, Andrew T</style></author><author><style face="normal" font="default" size="100%">Heliövaara, Markku</style></author><author><style face="normal" font="default" size="100%">Hicks, Andrew A</style></author><author><style face="normal" font="default" size="100%">Hingorani, Aroon D</style></author><author><style face="normal" font="default" size="100%">Hoffmann, Wolfgang</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Homuth, Georg</style></author><author><style face="normal" font="default" size="100%">Humphries, Steve E</style></author><author><style face="normal" font="default" size="100%">Hyppönen, Elina</style></author><author><style face="normal" font="default" size="100%">Illig, Thomas</style></author><author><style face="normal" font="default" size="100%">Järvelin, Marjo-Riitta</style></author><author><style face="normal" font="default" 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size="100%">Kuh, Diana</style></author><author><style face="normal" font="default" size="100%">Laakso, Markku</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">März, Winfried</style></author><author><style face="normal" font="default" size="100%">Munroe, Patricia B</style></author><author><style face="normal" font="default" size="100%">Njølstad, Inger</style></author><author><style face="normal" font="default" size="100%">Oostra, Ben A</style></author><author><style face="normal" font="default" size="100%">Palmer, Colin N A</style></author><author><style face="normal" font="default" size="100%">Pedersen, Nancy L</style></author><author><style face="normal" font="default" size="100%">Perola, Markus</style></author><author><style face="normal" font="default" size="100%">Pérusse, Louis</style></author><author><style face="normal" font="default" size="100%">Peters, 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Unnur</style></author><author><style face="normal" font="default" size="100%">Stumvoll, Michael</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%">Uusitupa, Matti</style></author><author><style face="normal" font="default" size="100%">van der Harst, Pim</style></author><author><style face="normal" font="default" size="100%">Veronesi, Giovanni</style></author><author><style face="normal" font="default" size="100%">Walker, Mark</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%">Wichmann, H-Erich</style></author><author><style face="normal" font="default" size="100%">Abecasis, Goncalo R</style></author><author><style face="normal" font="default" size="100%">Assimes, Themistocles L</style></author><author><style face="normal" font="default" size="100%">Berndt, Sonja I</style></author><author><style face="normal" font="default" size="100%">Boehnke, Michael</style></author><author><style face="normal" font="default" size="100%">Borecki, Ingrid B</style></author><author><style face="normal" font="default" size="100%">Deloukas, Panos</style></author><author><style face="normal" font="default" size="100%">Franke, Lude</style></author><author><style face="normal" font="default" size="100%">Frayling, Timothy M</style></author><author><style face="normal" font="default" size="100%">Groop, Leif C</style></author><author><style face="normal" font="default" size="100%">Hunter, David J</style></author><author><style face="normal" font="default" size="100%">Kaplan, Robert C</style></author><author><style face="normal" font="default" size="100%">O'Connell, Jeffrey R</style></author><author><style face="normal" font="default" size="100%">Qi, Lu</style></author><author><style face="normal" font="default" size="100%">Schlessinger, David</style></author><author><style face="normal" font="default" size="100%">Strachan, David P</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">van Duijn, Cornelia M</style></author><author><style face="normal" font="default" size="100%">Willer, Cristen J</style></author><author><style face="normal" font="default" size="100%">Visscher, Peter M</style></author><author><style face="normal" font="default" size="100%">Yang, Jian</style></author><author><style face="normal" font="default" size="100%">Hirschhorn, Joel N</style></author><author><style face="normal" font="default" size="100%">Zillikens, M Carola</style></author><author><style face="normal" font="default" size="100%">McCarthy, Mark I</style></author><author><style face="normal" font="default" size="100%">Speliotes, Elizabeth K</style></author><author><style face="normal" font="default" size="100%">North, Kari E</style></author><author><style face="normal" font="default" size="100%">Fox, Caroline S</style></author><author><style face="normal" font="default" size="100%">Barroso, Inês</style></author><author><style face="normal" font="default" size="100%">Franks, Paul W</style></author><author><style face="normal" font="default" size="100%">Ingelsson, Erik</style></author><author><style face="normal" font="default" size="100%">Heid, Iris M</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Cupples, L Adrienne</style></author><author><style face="normal" font="default" size="100%">Morris, Andrew P</style></author><author><style face="normal" font="default" size="100%">Lindgren, Cecilia M</style></author><author><style face="normal" font="default" size="100%">Mohlke, Karen L</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">ADIPOGen Consortium</style></author><author><style face="normal" font="default" size="100%">CARDIOGRAMplusC4D Consortium</style></author><author><style face="normal" font="default" size="100%">CKDGen consortium</style></author><author><style face="normal" font="default" size="100%">GEFOS Consortium</style></author><author><style face="normal" font="default" size="100%">GENIE Consortium</style></author><author><style face="normal" font="default" size="100%">GLGC</style></author><author><style face="normal" font="default" size="100%">ICBP</style></author><author><style face="normal" font="default" size="100%">International Endogene Consortium</style></author><author><style face="normal" font="default" size="100%">LifeLines Cohort Study</style></author><author><style face="normal" font="default" size="100%">MAGIC Investigators</style></author><author><style face="normal" font="default" size="100%">MuTHER Consortium</style></author><author><style face="normal" font="default" size="100%">PAGE Consortium</style></author><author><style face="normal" font="default" size="100%">ReproGen Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">New genetic loci link adipose and insulin biology to body fat distribution.</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%">Adipocytes</style></keyword><keyword><style  face="normal" font="default" size="100%">Adipogenesis</style></keyword><keyword><style  face="normal" font="default" size="100%">Adipose Tissue</style></keyword><keyword><style  face="normal" font="default" size="100%">Age Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Body Fat Distribution</style></keyword><keyword><style  face="normal" font="default" size="100%">Body Mass Index</style></keyword><keyword><style  face="normal" font="default" size="100%">Continental Population Groups</style></keyword><keyword><style  face="normal" font="default" size="100%">Epigenesis, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Europe</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</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%">Insulin</style></keyword><keyword><style  face="normal" font="default" size="100%">Insulin Resistance</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Models, Biological</style></keyword><keyword><style  face="normal" font="default" size="100%">Neovascularization, Physiologic</style></keyword><keyword><style  face="normal" font="default" size="100%">Obesity</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Characteristics</style></keyword><keyword><style  face="normal" font="default" size="100%">Transcription, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Waist-Hip Ratio</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 Feb 12</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">518</style></volume><pages><style face="normal" font="default" size="100%">187-96</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P &lt; 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">7538</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/25673412?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%">Lunetta, Kathryn L</style></author><author><style face="normal" font="default" size="100%">Day, Felix R</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%">Tung, Joyce Y</style></author><author><style face="normal" font="default" size="100%">Hinds, David A</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Elks, Cathy E</style></author><author><style face="normal" font="default" size="100%">Altmaier, Elisabeth</style></author><author><style face="normal" font="default" size="100%">He, Chunyan</style></author><author><style face="normal" font="default" size="100%">Huffman, Jennifer E</style></author><author><style face="normal" font="default" size="100%">Mihailov, Evelin</style></author><author><style face="normal" font="default" size="100%">Porcu, Eleonora</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%">Schick, Ursula M</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%">Thompson, Deborah J</style></author><author><style face="normal" font="default" size="100%">Traglia, Michela</style></author><author><style face="normal" font="default" size="100%">Wang, Carol A</style></author><author><style face="normal" font="default" size="100%">Yerges-Armstrong, Laura M</style></author><author><style face="normal" font="default" size="100%">Antoniou, Antonis C</style></author><author><style face="normal" font="default" size="100%">Barbieri, Caterina</style></author><author><style face="normal" font="default" size="100%">Coviello, Andrea D</style></author><author><style face="normal" font="default" size="100%">Cucca, Francesco</style></author><author><style face="normal" font="default" size="100%">Demerath, Ellen W</style></author><author><style face="normal" font="default" size="100%">Dunning, Alison M</style></author><author><style face="normal" font="default" size="100%">Gandin, Ilaria</style></author><author><style face="normal" font="default" size="100%">Grove, Megan L</style></author><author><style face="normal" font="default" size="100%">Gudbjartsson, Daniel F</style></author><author><style face="normal" font="default" size="100%">Hocking, Lynne J</style></author><author><style face="normal" font="default" size="100%">Hofman, Albert</style></author><author><style face="normal" font="default" size="100%">Huang, Jinyan</style></author><author><style face="normal" font="default" size="100%">Jackson, Rebecca D</style></author><author><style face="normal" font="default" size="100%">Karasik, David</style></author><author><style face="normal" font="default" size="100%">Kriebel, Jennifer</style></author><author><style face="normal" font="default" size="100%">Lange, Ethan M</style></author><author><style face="normal" font="default" size="100%">Lange, Leslie A</style></author><author><style face="normal" font="default" size="100%">Langenberg, Claudia</style></author><author><style face="normal" font="default" size="100%">Li, Xin</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%">Morrison, Alanna C</style></author><author><style face="normal" font="default" size="100%">Padmanabhan, Sandosh</style></author><author><style face="normal" font="default" size="100%">Pirie, Ailith</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%">Reiner, Alex P</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Sala, Cinzia F</style></author><author><style face="normal" font="default" size="100%">Schlessinger, David</style></author><author><style face="normal" font="default" size="100%">Scott, Robert A</style></author><author><style face="normal" font="default" size="100%">Stöckl, Doris</style></author><author><style face="normal" font="default" size="100%">Visser, Jenny A</style></author><author><style face="normal" font="default" size="100%">Völker, Uwe</style></author><author><style face="normal" font="default" size="100%">Vozzi, Diego</style></author><author><style face="normal" font="default" size="100%">Wilson, James G</style></author><author><style face="normal" font="default" size="100%">Zygmunt, Marek</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Buring, Julie E</style></author><author><style face="normal" font="default" size="100%">Crisponi, Laura</style></author><author><style face="normal" font="default" size="100%">Easton, Douglas F</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">Hu, Frank B</style></author><author><style face="normal" font="default" size="100%">Liu, Simin</style></author><author><style face="normal" font="default" size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Pennell, Craig E</style></author><author><style face="normal" font="default" size="100%">Ridker, Paul M</style></author><author><style face="normal" font="default" size="100%">Strauch, Konstantin</style></author><author><style face="normal" font="default" size="100%">Streeten, Elizabeth A</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%">Ulivi, Sheila</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%">Wellons, Melissa</style></author><author><style face="normal" font="default" size="100%">Franceschini, Nora</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">Thorsteinsdottir, Unnur</style></author><author><style face="normal" font="default" size="100%">Murray, Anna</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Murabito, Joanne M</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%">EPIC-InterAct Consortium</style></author><author><style face="normal" font="default" size="100%">Generation Scotland</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Rare coding variants and X-linked loci associated with age at menarche.</style></title><secondary-title><style face="normal" font="default" size="100%">Nat Commun</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nat Commun</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">6</style></volume><pages><style face="normal" font="default" size="100%">7756</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P&lt;5 × 10(-8)). In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P=9.4 × 10(-13)) and FAAH2 (rs5914101, P=4.9 × 10(-10)). Highlighted genes implicate cellular energy homeostasis, post-transcriptional gene silencing and fatty-acid amide signalling. A frequently reported mutation in TACR3 for idiopathic hypogonatrophic hypogonadism (p.W275X) is associated with 1.25-year-later menarche (P=2.8 × 10(-11)), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. Collectively, these novel variants explain ∼0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait.&lt;/p&gt;</style></abstract><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26239645?dopt=Abstract</style></custom1></record></records></xml>