Clinical Manifestations of Hyperandrogenism and Ovulatory Dysfunction Are Not Associated with His1058 C/T SNP (rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine Kinase Domain in Kashmiri Women with PCOS

The study examined the association of the His1058 C/T SNP (rs1799817) polymorphism in the insulin receptor gene with PCOS in 349 Kashmiri women, including 249 with PCOS and 100 controls. It found no significant association between the SNP and PCOS, as allele and genotype frequencies were similar between cases and controls. The study concluded that this genetic variant did not significantly impact clinical manifestations of hyperandrogenism, ovulatory dysfunction, or metabolic parameters in Kashmiri women with PCOS. Although the T allele was linked to increased insulin resistance in a subphenotype, it did not significantly affect overall clinical presentations. The study noted limitations such as insufficient control numbers and potential selection bias.