Pathogenic Anti-Mullerian Hormone Variants in Polycystic Ovary Syndrome.

ABSTRACT:

Context

Polycystic ovary syndrome (PCOS), a common endocrine condition, is the leading cause of anovulatory infertility.

Objective

Given that common disease-susceptibility variants account for only a small percentage of the estimated PCOS heritability, we tested the hypothesis that rare variants contribute to this deficit in heritability.

Design, setting, and participants

Unbiased whole-genome sequencing (WGS) of 80 patients with PCOS and 24 reproductively normal control subjects identified potentially deleterious variants in AMH, the gene encoding anti-Müllerian hormone (AMH). Targeted sequencing of AMH of 643 patients with PCOS and 153 control patients was used to replicate WGS findings.

Main outcome measures

Dual luciferase reporter assays measured the impac

SUBMITTER: Gorsic LK 

PROVIDER: S-EPMC5546867 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature