Publication: Genome-wide association study identifies 74 loci associated with educational attainment
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2016
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Okbay, A., J. P. Beauchamp, M. A. Fontana, J. J. Lee, T. H. Pers, C. A. Rietveld, P. Turley, et al. 2016. “Genome-wide association study identifies 74 loci associated with educational attainment.” Nature 533 (7604): 539-542. doi:10.1038/nature17671. http://dx.doi.org/10.1038/nature17671.
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Abstract
Summary Educational attainment (EA) is strongly influenced by social and other environmental factors, but genetic factors are also estimated to account for at least 20% of the variation across individuals1. We report the results of a genome-wide association study (GWAS) for EA that extends our earlier discovery sample1,2 of 101,069 individuals to 293,723 individuals, and a replication in an independent sample of 111,349 individuals from the UK Biobank. We now identify 74 genome-wide significant loci associated with number of years of schooling completed. Single-nucleotide polymorphisms (SNPs) 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 behavioral phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because EA 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 disease.
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