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Polygenic risk scores applied to a single cohort reveal pleiotropy among hundreds of human phenotypes

By Adam Socrates, Tom Bond, Ville Karhunen, Juha Auvinen, Cornelius A. Rietveld, Juha Veijola, Marjo-Riitta Jarvelin, Paul O’Reilly

Posted 14 Oct 2017
bioRxiv DOI: 10.1101/203257

Background: There is now convincing evidence that pleiotropy across the genome contributes to the correlation between human traits and comorbidity of diseases. The recent availability of genome-wide association study (GWAS) results have made the polygenic risk score (PRS) approach a powerful way to perform genetic prediction and identify genetic overlap among phenotypes. Methods and findings: Here we use the PRS method to assess evidence for shared genetic aetiology across hundreds of traits within a single epidemiological study, the Northern Finland Birth Cohort 1966 (NFBC1966). We replicate numerous recent findings, such as a genetic association between Alzheimers disease and lipid levels, while the depth of phenotyping in the NFBC1966 highlights a range of novel significant genetic associations between traits. Conclusions: This study illustrates the power in taking a hypothesis-free approach to the study of shared genetic aetiology between human traits and diseases. It also demonstrates the potential of the PRS method to provide important biological insights using only a single well-phenotyped epidemiological study of moderate sample size (~5k), with important advantages over evaluating genetic correlations from GWAS summary statistics only.

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