A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome

Objective,, To investigate several single nucleotide polymorphisms (SNPs) in the insulin receptor (INSR) gene that have significant associations with pathogenesis of polycystic ovary syndrome (PCOS) in a Korean population. Design: Case-control study. Setting: University-based hospital. Patient(s): 134 patients with PCOS and 100 healthy women as controls. Intervention(S): All exons of INSR in DNA samples from 100 healthy women and 134 women with PCOS were sequenced and compared. Main Outcome Measure(s): Frequencies of genotypes for several SNPs in INSR gene that were found as specifically expressed SNPs in Korean population. Result(S): Among nine SNPs analyzed in a large population, the genotypic frequencies of eight SNPs were similar, and they had no statistically significant association with PCOS. However, the frequency of a minor allele for one novel SNP, +176477 C>T, was higher in the control group than the patient group. Conclusion(S): Among the analyzed SNPs, +176477 C>T, a novel SNP in the INSR gene, was associated with the pathogenesis of PCOS in a Korean population.