Endocrine

, Volume 30, Issue 1, pp 19–26

The role of genes and environment in the etiology of PCOS

  • Evanthia Diamanti-Kandarakis
  • Helen Kandarakis
  • Richard S. Legro
Article

DOI: 10.1385/ENDO:30:1:19

Cite this article as:
Diamanti-Kandarakis, E., Kandarakis, H. & Legro, R.S. Endocr (2006) 30: 19. doi:10.1385/ENDO:30:1:19

Abstract

Both genes and the environment contribute to PCOS. Obesity, exacerbated by poor dietary choices and physical inactivity, worsens PCOS in susceptible individuals. The role of other environmental modifiers such as infectious agents or toxins are speculative. Phenotype confusion has characterized genetic studies of PCOS. Although several loci have been proposed as PCOS genes including CYP11A, the insulin gene, the follistatin gene, and a region near the insulin receptor, the evidence supporting linkage is not overwhelming. The strongest case can be made for the region near the insulin recept or gene (but not involving this gene), as it has been identified in two separate studies, and perhaps most importantly has not yet been refuted by larger studies. However, the responsible gene at chromosome 19p13.3 remains to be identified. To date, no gene has been identified that causes or contributes substantially to the development of a PCOS phenotype.

Key Words

Insulin resistance familial studies association studies linkage obesity 

Copyright information

© Humana Press Inc 2006

Authors and Affiliations

  • Evanthia Diamanti-Kandarakis
    • 1
  • Helen Kandarakis
    • 1
  • Richard S. Legro
    • 1
  1. 1.Endocrine Section, First Department of MedicineUniversity of Athens Medical SchoolAthensGreece
  2. 2.Department of Obstetrics and Gynecology, M.S. Hershey Medical CenterPennsylvania State University College of MedicineHersheyUSA

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