TY - JOUR
T1 - The role of genes and environment in the etiology of PCOS
AU - Diamanti-Kandarakis, Evanthia
AU - Kandarakis, Helen
AU - Legro, Richard S.
N1 - Funding Information:
This work was supported by the National Cooperative Program in Infertility Research (NCPIR) U54 HD34449, a GCRC grant MO1 RR 10732 to Pennsylvania State University and K24 HD01476 (to RSL).
PY - 2006/8
Y1 - 2006/8
N2 - 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 receptor 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.
AB - 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 receptor 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.
UR - http://www.scopus.com/inward/record.url?scp=33845867103&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33845867103&partnerID=8YFLogxK
U2 - 10.1385/ENDO:30:1:19
DO - 10.1385/ENDO:30:1:19
M3 - Review article
C2 - 17185788
AN - SCOPUS:33845867103
SN - 1355-008X
VL - 30
SP - 19
EP - 26
JO - Endocrine
JF - Endocrine
IS - 1
ER -
