Table of Contents
International Journal of Medical Genetics
Volume 2014, Article ID 478972, 10 pages
Review Article

Genetic Markers of Polycystic Ovary Syndrome: Emphasis on Insulin Resistance

Department of Molecular Endocrinology, National Institute for Research in Reproductive Health (ICMR), J. M. Street, Parel, Mumbai 400012, India

Received 25 April 2014; Accepted 18 July 2014; Published 3 August 2014

Academic Editor: George N. Goulielmos

Copyright © 2014 Nuzhat Shaikh 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.


Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of childbearing age causing not only reproductive but also metabolic anomalies. PCOS women present with ovulatory dysfunction, abnormal hormones, hyperandrogenemia, obesity, and hyperinsulinemia. It is a heterogeneous disorder which results from interaction of multiple genes along with environmental factors. Insulin resistance is a central key element contributing to PCOS pathogenesis and is further aggravated by obesity. Insulin regulates metabolic homeostasis and contributes to ovarian steroidogenesis. Candidate gene analyses have dissected genes related to insulin secretion and action for their association with PCOS susceptibility. Although a large number of genomic variants have been shown to be associated with PCOS, no single candidate gene has emerged as a convincing biomarker thus far. This may be attributed to large amount of heterogeneity observed in this disorder. This review presents an overview of the polymorphisms in genes related to insulin signaling and their association with PCOS and its related traits.