An Association Study between INSR/NsiI (rs2059806) and INSR/PmlI (rs1799817) SNPs in Women with Polycystic Ovary Syndrome from West Azerbaijan Province, Iran

Background It has been demonstrated that insulin signaling pathway related genes have important roles in polycystic ovary syndrome (PCOS) risk. The goal of present investigation was to assess the potential association between INSR/NsiI (rs2059806) and INSR/PmlI (rs1799817) SNPs and PCOS. Methods 50 women with PCOS and 47 normal controls entered the study. NsiI and PmlI SNPs in the INSR gene were determined by RFLP-PCR. Results INSR/NsiI (rs2059806) SNP GG, GA, AA, G and A genotypic and allelic frequencies were 45(90%), 5(10%), 0(0%), 95(95%) and 5(5%) in cases and 41 (87.2%), 6(12.8%), 0(0%), 88(93.6%) and 6(6.38%) in controls, respectively. INSR/ PmlI (rs1799817) SNPs resulted in three genotypes of CC, CT, and TT with C and T alleles. The frequencies of PmlI (rs1799817) SNPs in the INSR gene were 37(37%) and 63(63%) in cases, also 39(41.49%) and 55 (58.51%) in controls regarding T and C alleles. The frequencies of PmlI (rs1799817) SNPs in the INSR gene were 4(8%), 29(58%), and 17(34%) in cases, also 5(10.64%), 29(61.7%), and 13(27.66%) in controls regarding TT, TC, and CC genotypes, respectively. Conclusion The present study as the first investigation of its own kind in Iranian Azeri Turkish women, reported no association between NsiI (rs2059806) and PmlI (rs1799817) SNPs in the INSR gene and PCOS risk.