Genetics of the polycystic ovary syndrome.
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.
Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, United States.
Gülüm
G
Kosova
Margrit
M
Urbanek
D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; D002154:Calpain / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D000071837:Fibrillins; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007328:Insulin / Q000235:genetics; D055504:Insulin Receptor Substrate Proteins / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics; D011972:Receptor, Insulin / Q000235:genetics; D012738:Sex Hormone-Binding Globulin / Q000235:genetics; D058118:Transcription Factor 7-Like 2 Protein / Q000235:genetics
C493782:FBN3 protein, human; D000071837:Fibrillins; C526292:IRS1 protein, human; D007328:Insulin; D055504:Insulin Receptor Substrate Proteins; D008840:Microfilament Proteins; D011506:Proteins; D012738:Sex Hormone-Binding Globulin; C544894:TCF7L2 protein, human; D058118:Transcription Factor 7-Like 2 Protein; D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; C526492:FTO protein, human; D011972:Receptor, Insulin; D002154:Calpain; C415197:calpain 10