We investigated and validated most of the hitherto-suggested polymorphisms for PCOS. 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. Four SNPs (rs10060745,

more »

... 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). Our results provide evidence for the relationship between high prevalence of insulin resistance and PCOS.