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Sex-heterogeneous SNPs disproportionately influence gene expression and health

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  • Michela Traglia
  • Margaux Bout
  • Lauren A Weiss

Abstract

Phenotypic differences across sexes are pervasive, but the genetic architecture of sex differences within and across phenotypes is mostly unknown. In this study, we aimed to improve detection power for sex-differentially contributing SNPs previously demonstrated to be enriched in disease association, and we investigate their functions in health, pathophysiology, and genetic function. We leveraged GIANT and UK Biobank summary statistics and defined a set of 2,320 independent SNPs having sexually dimorphic effects within and across biometric traits (MAF > 0.001, P

Suggested Citation

  • Michela Traglia & Margaux Bout & Lauren A Weiss, 2022. "Sex-heterogeneous SNPs disproportionately influence gene expression and health," PLOS Genetics, Public Library of Science, vol. 18(5), pages 1-18, May.
    • Handle: RePEc:plo:pgen00:1010147
    DOI: 10.1371/journal.pgen.1010147
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