期刊
MOLECULAR AND CELLULAR ENDOCRINOLOGY
卷 373, 期 1-2, 页码 29-38出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.mce.2012.10.009
关键词
PCOS; Complex diseases; Association studies; GWAS
资金
- NCATS NIH HHS [UL1 TR000150] Funding Source: Medline
- NICHD NIH HHS [P50 HD044405, K12 HD055884, R01 HD057450] Funding Source: Medline
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-beta 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. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
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