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

作者：Lee Eung Ji; Oh Bermseok; Lee Jong Young; Kimm Kuchan; Lee Sook Hwan; Baek Kwang Hyun^*

来源：Fertility and Sterility, 2008, 89(5): 1213-1220.

DOI：10.1016/j.fertnstert.2007.05.026

• single nucleotide polymorphism
• polycystic ovary syndrome
• insulin receptor
• type 2 diabetes

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.

• 出版日期2008-5