全基因组关联研究确定了74个与受教育程度相关的基因座。
Genome-wide association study identifies 74 loci associated with educational attainment.
作者信息
Okbay Aysu, Beauchamp Jonathan P, Fontana Mark Alan, Lee James J, Pers Tune H, Rietveld Cornelius A, Turley Patrick, Chen Guo-Bo, Emilsson Valur, Meddens S Fleur W, Oskarsson Sven, Pickrell Joseph K, Thom Kevin, Timshel Pascal, de Vlaming Ronald, Abdellaoui Abdel, Ahluwalia Tarunveer S, Bacelis Jonas, Baumbach Clemens, Bjornsdottir Gyda, Brandsma Johannes H, Pina Concas Maria, Derringer Jaime, Furlotte Nicholas A, Galesloot Tessel E, Girotto Giorgia, Gupta Richa, Hall Leanne M, Harris Sarah E, Hofer Edith, Horikoshi Momoko, Huffman Jennifer E, Kaasik Kadri, Kalafati Ioanna P, Karlsson Robert, Kong Augustine, Lahti Jari, van der Lee Sven J, deLeeuw Christiaan, Lind Penelope A, Lindgren Karl-Oskar, Liu Tian, Mangino Massimo, Marten Jonathan, Mihailov Evelin, Miller Michael B, van der Most Peter J, Oldmeadow Christopher, Payton Antony, Pervjakova Natalia, Peyrot Wouter J, Qian Yong, Raitakari Olli, Rueedi Rico, Salvi Erika, Schmidt Börge, Schraut Katharina E, Shi Jianxin, Smith Albert V, Poot Raymond A, St Pourcain Beate, Teumer Alexander, Thorleifsson Gudmar, Verweij Niek, Vuckovic Dragana, Wellmann Juergen, Westra Harm-Jan, Yang Jingyun, Zhao Wei, Zhu Zhihong, Alizadeh Behrooz Z, Amin Najaf, Bakshi Andrew, Baumeister Sebastian E, Biino Ginevra, Bønnelykke Klaus, Boyle Patricia A, Campbell Harry, Cappuccio Francesco P, Davies Gail, De Neve Jan-Emmanuel, Deloukas Panos, Demuth Ilja, Ding Jun, Eibich Peter, Eisele Lewin, Eklund Niina, Evans David M, Faul Jessica D, Feitosa Mary F, Forstner Andreas J, Gandin Ilaria, Gunnarsson Bjarni, Halldórsson Bjarni V, Harris Tamara B, Heath Andrew C, Hocking Lynne J, Holliday Elizabeth G, Homuth Georg, Horan Michael A, Hottenga Jouke-Jan, de Jager Philip L, Joshi Peter K, Jugessur Astanand, Kaakinen Marika A, Kähönen Mika, Kanoni Stavroula, Keltigangas-Järvinen Liisa, Kiemeney Lambertus A L M, Kolcic Ivana, Koskinen Seppo, Kraja Aldi T, Kroh Martin, Kutalik Zoltan, Latvala Antti, Launer Lenore J, Lebreton Maël P, Levinson Douglas F, Lichtenstein Paul, Lichtner Peter, Liewald David C M, Loukola Anu, Madden Pamela A, Mägi Reedik, Mäki-Opas Tomi, Marioni Riccardo E, Marques-Vidal Pedro, Meddens Gerardus A, McMahon George, Meisinger Christa, Meitinger Thomas, Milaneschi Yusplitri, Milani Lili, Montgomery Grant W, Myhre Ronny, Nelson Christopher P, Nyholt Dale R, Ollier William E R, Palotie Aarno, Paternoster Lavinia, Pedersen Nancy L, Petrovic Katja E, Porteous David J, Räikkönen Katri, Ring Susan M, Robino Antonietta, Rostapshova Olga, Rudan Igor, Rustichini Aldo, Salomaa Veikko, Sanders Alan R, Sarin Antti-Pekka, Schmidt Helena, Scott Rodney J, Smith Blair H, Smith Jennifer A, Staessen Jan A, Steinhagen-Thiessen Elisabeth, Strauch Konstantin, Terracciano Antonio, Tobin Martin D, Ulivi Sheila, Vaccargiu Simona, Quaye Lydia, van Rooij Frank J A, Venturini Cristina, Vinkhuyzen Anna A E, Völker Uwe, Völzke Henry, Vonk Judith M, Vozzi Diego, Waage Johannes, Ware Erin B, Willemsen Gonneke, Attia John R, Bennett David A, Berger Klaus, Bertram Lars, Bisgaard Hans, Boomsma Dorret I, Borecki Ingrid B, Bültmann Ute, Chabris Christopher F, Cucca Francesco, Cusi Daniele, Deary Ian J, Dedoussis George V, van Duijn Cornelia M, Eriksson Johan G, Franke Barbara, Franke Lude, Gasparini Paolo, Gejman Pablo V, Gieger Christian, Grabe Hans-Jörgen, Gratten Jacob, Groenen Patrick J F, Gudnason Vilmundur, van der Harst Pim, Hayward Caroline, Hinds David A, Hoffmann Wolfgang, Hyppönen Elina, Iacono William G, Jacobsson Bo, Järvelin Marjo-Riitta, Jöckel Karl-Heinz, Kaprio Jaakko, Kardia Sharon L R, Lehtimäki Terho, Lehrer Steven F, Magnusson Patrik K E, Martin Nicholas G, McGue Matt, Metspalu Andres, Pendleton Neil, Penninx Brenda W J H, Perola Markus, Pirastu Nicola, Pirastu Mario, Polasek Ozren, Posthuma Danielle, Power Christine, Province Michael A, Samani Nilesh J, Schlessinger David, Schmidt Reinhold, Sørensen Thorkild I A, Spector Tim D, Stefansson Kari, Thorsteinsdottir Unnur, Thurik A Roy, Timpson Nicholas J, Tiemeier Henning, Tung Joyce Y, Uitterlinden André G, Vitart Veronique, Vollenweider Peter, Weir David R, Wilson James F, Wright Alan F, Conley Dalton C, Krueger Robert F, Davey Smith George, Hofman Albert, Laibson David I, Medland Sarah E, Meyer Michelle N, Yang Jian, Johannesson Magnus, Visscher Peter M, Esko Tõnu, Koellinger Philipp D, Cesarini David, Benjamin Daniel J
机构信息
Department of Applied Economics, Erasmus School of Economics, Erasmus University Rotterdam, Rotterdam, 3062 PA, The Netherlands.
Department of Epidemiology, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands.
出版信息
Nature. 2016 May 26;533(7604):539-42. doi: 10.1038/nature17671. Epub 2016 May 11.
Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
教育程度受社会和其他环境因素的强烈影响，但据估计，遗传因素至少占个体间差异的20%。在此，我们报告了一项关于教育程度的全基因组关联研究（GWAS）的结果，该研究将我们之前101,069人的发现样本扩展至293,723人，并在来自英国生物银行的111,349人的独立样本中进行了重复研究。我们识别出74个与完成学业年限相关的全基因组显著位点。与教育程度相关的单核苷酸多态性在调节胎儿大脑基因表达的基因组区域中不成比例地出现。候选基因在神经组织中优先表达，尤其是在产前阶段，并富集于参与神经发育的生物学途径。我们的研究结果表明，即使对于一个主要由环境决定的行为表型，一项有足够效力的GWAS也能识别出可重复的相关遗传变异，这些变异提示了生物学上相关的途径。由于大量个体都有教育程度的测量数据，它将继续作为一个替代表型，用于表征包括认知和神经精神疾病在内的相关表型的遗传影响。
Zotero 插件