Genetics of the polycystic ovary syndrome

被引：114
|
作者：
Kosova, Gueluem [1 ]
Urbanek, Margrit [1 ]
机构：
[1] Northwestern Univ, Feinberg Sch Med, Div Endocrinol Metab & Mol Med, Chicago, IL 60611 USA
来源：
MOLECULAR AND CELLULAR ENDOCRINOLOGY | 2013年 / 373卷 / 1-2期
关键词：
PCOS; Complex diseases; Association studies; GWAS; HORMONE-BINDING GLOBULIN; INSULIN-RECEPTOR GENE; GENOME-WIDE ASSOCIATION; SINGLE NUCLEOTIDE POLYMORPHISM; BODY-MASS INDEX; TYPE-2; DIABETES-MELLITUS; FTO GENE; SUSCEPTIBILITY LOCI; METABOLIC FEATURES; CHINESE POPULATION;
D O I：
10.1016/j.mce.2012.10.009
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
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.
引用
收藏
页码：29 / 38
页数：10
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