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. 2020 Jun:12:26-32.
doi: 10.1016/j.coemr.2020.02.011. Epub 2020 Apr 3.

The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome

Matthew Dapas, Andrea Dunaif

The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome

Matthew Dapas et al. Curr Opin Endocr Metab Res. 2020 Jun.

Abstract

Polycystic ovary syndrome (PCOS) is a highly heritable disorder, but only a small proportion of the heritability can be accounted for by common genetic risk variants identified to date. It is possible that variants with lower allele frequencies that cannot be detected using genome-wide association study arrays contribute to PCOS. Here, we discuss the challenges inherent to studying rare genetic variants in complex disease and review several recent studies that have used DNA sequencing techniques to investigate whether rare variants play a role in PCOS pathogenesis. We evaluate these findings in the context of the latest literature in PCOS and complex disease genetics.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

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