GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

Abstract

A genome-wide association study (GWAS) of educational attainment was conducted in a discovery sample of 101,069 individuals and a replication sample of 25,490. Three independent single-nucleotide polymorphisms (SNPs) are genome-wide significant (rs9320913, rs11584700, rs4851266), and all three replicate. Estimated effects sizes are small (coefficient of determination R(2) ≈ 0.02%), approximately 1 month of schooling per allele. A linear polygenic score from all measured SNPs accounts for ≈2% of the variance in both educational attainment and cognitive function. Genes in the region of the loci have previously been associated with health, cognitive, and central nervous system phenotypes, and bioinformatics analyses suggest the involvement of the anterior caudate nucleus. These findings provide promising candidate SNPs for follow-up work, and our effect size estimates can anchor power analyses in social-science genetics.

Fig. 1

Regional association plots of replicated loci associated with educational attainment [(A): rs9320913, (B): rs11584700, (C): rs4851266]. The plots are centered on the SNPs with the lowest p-values in the discovery stage (purple diamond). The R² values are from the CEU HapMap 2 samples. The CEU HapMap 2 recombination rates are indicated with a blue line on the right-hand y-axis. The figures were created with LocusZoom (http://csg.sph.umich.edu/locuszoom/).

Fig. 2

Solid lines show results from regressions of EduYears on linear polygenic scores in a set of unrelated individuals from the QIMR (N = 3526) and STR (N = 6770) cohorts. Dashed lines show results from regressions of Cognitive function on linear polygenic scores in a sample from STR (N = 1419). The scores are constructed from the meta-analysis for either EduYears or College, excluding the QIMR and STR cohorts.