生命银行
全基因组关联研究
学历
生物
遗传关联
遗传学
候选基因
单核苷酸多态性
基因组
遗传变异
基因
基因型
政治学
法学
作者
Aysu Okbay,Jonathan Beauchamp,Mark Alan Fontana,James J. Lee,Tune H. Pers,Cornelius A. Rietveld,Patrick Turley,Guo‐Bo Chen,Valur Emilsson,S. Fleur W. Meddens,Sven Oskarsson,Joseph K. Pickrell,Kevin Thom,Pascal Timshel,Ronald de Vlaming,Abdel Abdellaoui,Tarunveer S. Ahluwalia,Jonas Bacelis,Clemens Baumbach,Gyða Björnsdóttir
出处
期刊:Nature
[Springer Nature]
日期:2016-05-10
卷期号:533 (7604): 539-542
被引量:1386
摘要
A genome-wide association study in 293,723 individuals identifies 74 genetic variants associated with educational attainment, which, although only explaining a small proportion of the variation in educational attainment, highlights candidate genes and pathways for further study. The level of educational attainment as measured by years of schooling completed, while strongly influenced by social and environmental factors, has also been shown to have a smaller genetic contribution. Philipp Koellinger, Peter Visscher and colleagues from the Social Science Genetic Association Consortium (SSGAC) now report a genome-wide association study in 293,723 individuals identifying 74 genetic variants associated with level of educational attainment. Although the genetic associations explain only a small proportion of the variation in educational attainment, they highlight candidate genes and pathways for further study. 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 individuals1. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample1,2 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.
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