Educational attainment: A genome wide association study in 9538 Australians

Nicolas W. Martin, Sarah E. Medland, Karin J.H. Verweij, S. Hong Lee, Dale R. Nyholt, Pamela A. Madden, Andrew C. Heath, Grant W. Montgomery, Margaret J. Wright, Nicholas G. Martin

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Background: Correlations between Educational Attainment (EA) and measures of cognitive performance are as high as 0.8. This makes EA an attractive alternative phenotype for studies wishing to map genes affecting cognition due to the ease of collecting EA data compared to other cognitive phenotypes such as IQ. Methodology: In an Australian family sample of 9538 individuals we performed a genome-wide association scan (GWAS) using the imputed genotypes of ~2.4 million single nucleotide polymorphisms (SNP) for a 6-point scale measure of EA. Top hits were checked for replication in an independent sample of 968 individuals. A gene-based test of association was then applied to the GWAS results. Additionally we performed prediction analyses using the GWAS results from our discovery sample to assess the percentage of EA and full scale IQ variance explained by the predicted scores. Results: The best SNP fell short of having a genome-wide significant p-value (p = 9.77×10-7). In our independent replication sample six SNPs among the top 50 hits pruned for linkage disequilibrium (r2<0.8) had a p-value<0.05 but only one of these SNPs survived correction for multiple testing - rs7106258 (p = 9.7*10-4) located in an intergenic region of chromosome 11q14.1. The gene based test results were non-significant and our prediction analyses show that the predicted scores explained little variance in EA in our replication sample. Conclusion: While we have identified a polymorphism chromosome 11q14.1 associated with EA, further replication is warranted. Overall, the absence of genome-wide significant p-values in our large discovery sample confirmed the high polygenic architecture of EA. Only the assembly of large samples or meta-analytic efforts will be able to assess the implication of common DNA polymorphisms in the etiology of EA.

Original languageEnglish
Article numbere20128
JournalPloS one
Issue number6
StatePublished - 2011


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