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The genetics of the polycystic ovary syndrome

Nature Clinical Practice Endocrinology & Metabolism volume 3, pages 103–111 (2007)Cite this article

Abstract

Polycystic ovary syndrome (PCOS) is a very common endocrine disorder that has a strong genetic component and is characterized by polycystic ovaries, hyperandrogenemia, and menstrual irregularity. During the past decade, the roles of more than 70 candidate genes have been evaluated for a causal role in PCOS; however, because of genetic and phenotypic heterogeneity and underpowered studies, the results of many of these studies remain inconclusive. Here, the results of the genetic analysis of several candidate genes and gene regions—CYP11A (encoding cytochrome P450, family 11, subfamily A polypeptides), CAPN10 (encoding calpain 10), the insulin gene VNTR (variable number of tandem repeats), and D19S884 (a dinucleotide repeat marker mapping to chromosome 19p13.2)—are discussed in detail. Although past genetic studies of PCOS have yielded only modest results, resources and techniques have been assembled to remedy the major deficits of these early studies, promising that the next few years will be a very exciting and rewarding era for the genetic analysis of PCOS.

Key Points

  • Polycystic ovary syndrome (PCOS) is a very common endocrine disorder that has a large impact on the health burden of Western societies and that is believed to have a strong genetic basis

  • Dissection of the genetic basis of PCOS is currently an area of intensive investigation, with more than 70 genes that have been evaluated for their impact on the etiology of PCOS; however, to date, most studies have been underpowered and have yielded inconclusive, if not contradictory, results

  • The appropriate tools, including appropriately sized PCOS cohorts and genetic reagents, have now been assembled to carry out more suitable studies, promising that the next 10 years will be a very exciting and productive era in analysis of the genetic basis of PCOS

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  1. Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University School of Medicine, 303 East Chicago Avenue, Tarry 15-717, Chicago, IL 60611, USA m-urbanek@northwestern.edu

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  1. M Urbanek is an Assistant Professor in the Division of Endocrinology, Metabolism, and Molecular Medicine and the Center for Genetic Medicine, Northwestern University Medical School, Chicago, IL, USA.,

    Margrit Urbanek

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Urbanek, M. The genetics of the polycystic ovary syndrome. Nat Rev Endocrinol 3, 103–111 (2007). https://doi.org/10.1038/ncpendmet0400

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