Rxivist logo

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 F 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.

Download data

  • Downloaded 1,891 times
  • Download rankings, all-time:
    • Site-wide: 10,291
    • In genetics: 436
  • Year to date:
    • Site-wide: 43,117
  • Since beginning of last month:
    • Site-wide: 39,619

Altmetric data

Downloads over time

Distribution of downloads per paper, site-wide