Polycystic Ovary Syndrome Susceptibility Loci Inform Disease Etiological Heterogeneity.

ABSTRACT: Polycystic ovary syndrome (PCOS) is a complex disorder with heterogenous phenotypes and unclear etiology. A recent phenotypic clustering study identified metabolic and reproductive subtypes of PCOS. We hypothesize that the heterogeneity of PCOS manifestations reflects different mechanistic pathways and can be identified using a genetic approach. We applied k-means clustering to categorize the genome-wide significant PCOS variants into clusters based on their associations with selected quantitative traits that likely reflect PCOS etiological pathways. We evaluated the association of each cluster with PCOS-related traits and disease outcomes. We then applied Mendelian randomization to estimate the causal effects between the traits and PCOS. Three categories of variants were identified: adipo

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC8234947 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature