AKT2 GENE POLYMORPHISMS IN INDIAN WOMEN WITH POLYCYSTIC OVAR- IAN DISEASE (PCOD)

Polycystic Ovarian Disease (PCOD) has been reported to be the most prevalent endocrine condition among women in their reproductive age. About 70% of women with Polycystic Ovarian Disease (PCOS) have been reported to have insu- lin resistance. The AKT2 gene has been reported to be highly expressed in cells involved in the insulin, apoptotic as well as mitogenic signaling pathways. The aim of the research work was to determine the genetic interaction of the four AKT2 gene SNPs (rs2304188, rs11671439, rs3730051 and rs8100018), along with hormonal and clinical charac- teristics in PCOD patients in comparison to healthy individuals in the Indian female population. The study reports that rs11671439 CT and rs2304188 CT genotypes are significantly associated with the increased risk for the disease by 2.41 (95% CI=1.50-3.87) fold and 2.32 (95% CI=1.49-3.60) fold respectively. The rs11671439 T, rs8100018 G, and rs2304188 T minor alleles are significantly associated with the increased risk for the disease by 1.78 (95% CI=1. 20- 2.62) fold, 1.66 fold (95% CI=1.11-2.47) and 1.90 fold (95% CI=1.34-2.71) respectively. Genotype combination analysis revealed that the presence of multiple polymorphisms in the AKT2 genes might increase the risk for PCOD further in comparison to the presence of individual polymorphism.