Peroxisome proliferator activated receptor gamma gene variants influence susceptibility and insulin related traits in Indian women with polycystic ovary syndrome.

Journal of assisted reproduction and genetics

PubMedID: 23748472

Shaikh N, Mukherjee A, Shah N, Meherji P, Mukherjee S. Peroxisome proliferator activated receptor gamma gene variants influence susceptibility and insulin related traits in Indian women with polycystic ovary syndrome. J Assist Reprod Genet. 2013;30(7):913-21.
PURPOSE
Peroxisome proliferator activated receptor gamma (PPAR?), a transcription factor involved in glucose and lipid metabolism is one of the candidate genes associated with polycystic ovary syndrome (PCOS). We investigated individual and combined associations of Pro12Ala and His447His polymorphisms of PPAR? with PCOS susceptibility and its related traits (hyperinsulinemia, hyperandrogenemia and lipid parameters) in Indian women.

METHOD
Genotyping of PPAR? polymorphisms in this case-control study was performed in PCOS (n?=?450) and age-matched controls (n?=?300) by direct sequencing. Clinical, anthropometric, hormonal and metabolic parameters were estimated in 275 women with PCOS and 169 controls. Chi-square test was used to compare the categorical data while regression analysis was used to evaluate association of genotypes with PCOS as well as its related phenotypes.

RESULTS
The frequencies of CC and CG?+?GG genotypes of Pro12Ala (? (2)?=?15.3, p?
CONCLUSIONS
Pro12Ala polymorphism of PPAR? showed significant association with decreased PCOS susceptibility. Both polymorphisms influenced insulin related traits (2 h glucose, fasting insulin and HOMA-IR) and improved glucose metabolism in these women. This is the first report to establish that variations in PPAR? gene influence the insulin resistance pathophysiology in Indian women with PCOS.