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Mol Cell Endocrinol. 2013 Jul 5;373(1-2):29-38. doi: 10.1016/j.mce.2012.10.009. Epub 2012 Oct 16.

Genetics of the polycystic ovary syndrome.

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1
Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, United States.

Abstract

Polycystic ovary syndrome (PCOS) is a highly complex endocrine disorder, characterized by hyperandrogenemia, menstrual irregularities and polycystic ovaries. A strong genetic component to the etiology of PCOS is evident. However, due to the genetic and phenotypic heterogeneity of PCOS and the lack of insufficiently large cohorts, studies to identify specific contributing genes to date have yielded only few conclusive results. In this review we discuss the current status of the genetic analysis of PCOS including the results of numerous association studies with candidate genes involved in TGF-β and insulin signaling, type 2 diabetes mellitus and obesity susceptibility. Furthermore, we address current challenges in genetic studies of PCOS, and the promise of new approaches, including genome-wide association studies and next-generation sequencing.

PMID:
23079471
PMCID:
PMC3609918
DOI:
10.1016/j.mce.2012.10.009
[Indexed for MEDLINE]
Free PMC Article
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