A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome
Received 18 December 2006; received in revised form 4 April 2007; accepted 11 May 2007. published online 20 July 2007.
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.
aGraduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul, South Korea
bCenter for Genome Science, National Institute of Health, Seoul, South Korea
Reprint requests: Kwang-Hyun Baek, Ph.D., Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, 606-16 Yeoksam 1-Dong, Kangnam-Gu, Seoul 135-907, Korea (FAX: +82-2-3468-3264).
Supported by a grant from Korea Health 21 R&D Project, Ministry of Health & Welfare, Republic of Korea (01-PJ10-PG6-01GN13-0002).
ABSTRACT