An association study between INSR/NsiI (rs2059806) and INSR/PmlI (rs1799817) SNPs in women with polycystic ovary syndrome from West Azerbaijan Province, Iran

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