Associations of single nucleotide polymorphisms related to insulin resistance with polycystic ovary syndrome

Background: We investigated and validated most of the hitherto-suggested polymorphisms for PCOS. Materials and methods: DNA samples from 359 pre-menopausal Korean women with PCOS (n=196) and without (n=166) were analyzed by primer extension and matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry using iPLEX Gold technology from Sequenom (Sequenom Inc, San Diego, CA, USA) to determine the genotypic frequency of 80 single nucleotide polymorphisms (SNPs) from the 49 genes. Results: Four SNPs (rs10060745, rs1719889, rs680, rs705379) showed moderate association with a risk of PCOS. Three (rs1719889, rs680, and rs705379) out of four SNPs were related to insulin resistance. The rs705379 showed significant association with increased fasting glucose (p=0.045) and serum 2-h C-peptide level (p=0.026). The rs1719889 showed significant association with fasting glucose level (p=0.03). Conclusion: Our results provide evidence for the relationship between high prevalence of insulin resistance and PCOS.