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Polycystic Ovary Syndrome pp 51–86Cite as

Genetic Analyses of Polycystic Ovary Syndrome

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Part of the book series: Contemporary Endocrinology ((COE))

Summary

Polycystic ovary syndrome (PCOS) is a very common endocrine disorder with a strong genetic component that is characterized by hyperandrogenemia and menstrual irregularity. Over the last decade, the roles of more than 70 candidate genes in the etiology of PCOS have been evaluated. However, because of genetic and phenotypic heterogeneity and underpowered studies as a consequence of analyzing insufficiently large cohorts, the results of many of these studies remain inconclusive. This chapter will discuss the factors contributing to the complexity of genetic studies of PCOS including (1) the heritability of PCOS, (2) phenotyping heterogeneity, (3) power and study design of past and future genetic studies of PCOS, and (4) the results of a select group of candidate genes. Owing to the large number of PCOS candidate genes that have been studied, we have limited our discussion of candidate genes to six candidate gene regions that are specifically promising or have been studied intensively. The six genes are CYP11A, insulin gene variable number of tandem repeats (VNTR), calpain-10, sex hormone-binding globulin (SHBG), androgen receptor (AR) and X-chromosome inactivation, and the chromosome 19p13.2 susceptibility locus, D19S844. While past genetic studies of PCOS have yielded only modest results, the resources and techniques to remedy the major deficits of these early studies have now been assembled, promising that the next few years will be a very exciting and rewarding era for the genetic analysis of PCOS.

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Authors
  1. Margrit Urbanek PHD
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Editors and Affiliations

  1. Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University, Chicago, IL

    Andrea Dunaif MD

  2. Department of Reproductive Medicine, University of California, San Diego School of Medicine, La Jolla, CA

    R. Jeffrey Chang MD

  3. Institute of Reproductive and Developmental Biology, Imperial College London, London, UK

    Stephen Franks MD, FMEDSCI

  4. Department of Ob/Gyn, Penn State College of Medicine, Hershey, PA

    Richard S. Legro MD

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Urbanek, M. (2008). Genetic Analyses of Polycystic Ovary Syndrome. In: Dunaif, A., Chang, R.J., Franks, S., Legro, R.S. (eds) Polycystic Ovary Syndrome. Contemporary Endocrinology. Humana Press. https://doi.org/10.1007/978-1-59745-108-6_5

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  • DOI: https://doi.org/10.1007/978-1-59745-108-6_5

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