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PPAR Research
Volume 2007, Article ID 49109, 23 pages
http://dx.doi.org/10.1155/2007/49109
Review Article

The Genetic Basis of the Polycystic Ovary Syndrome: A Literature Review Including Discussion of PPAR-γ

1Department of Internal Medicine, Faculty of Medicine, Hacettepe University, Hacettepe, Ankara 06100, Turkey
2Endocrinology and Metabolism Unit, Faculty of Medicine, Hacettepe University, Hacettepe, Ankara 06100, Turkey
3Department of Medical Biology, Faculty of Medicine, Hacettepe University, Hacettepe, Ankara 06100, Turkey

Received 19 July 2006; Revised 24 November 2006; Accepted 3 December 2006

Academic Editor: Carolyn M. Komar

Copyright © 2007 Ugur Unluturk et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of the women of reproductive age. Familial clustering of PCOS has been consistently reported suggesting that genetic factors play a role in the development of the syndrome although PCOS cases do not exhibit a clear pattern of Mendelian inheritance. It is now well established that PCOS represents a complex trait similar to type-2 diabetes and obesity, and that both inherited and environmental factors contribute to the PCOS pathogenesis. A large number of functional candidate genes have been tested for association or linkage with PCOS phenotypes with more negative than positive findings. Lack of universally accepted diagnostic criteria, difficulties in the assignment of male phenotype, obscurity in the mode of inheritance, and particularly small sample size of the study populations appear to be major limitations for the genetic studies of PCOS. In the near future, utilizing the genome-wide scan approach and the HapMap project will provide a stronger potential for the genetic analysis of the syndrome.