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 a 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.