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

Lee, Eung-Ji; Oh, Bermseok; Lee, Jong-Young; Kimm, Kuchan; Lee, Sook-Hwan; Baek, Kwang-Hyun

doi:10.1016/j.fertnstert.2007.05.026

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Volume 89, Issue 5 , Pages 1213-1220, May 2008

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

Eung-Ji Lee, M.Sc.
- Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul, South Korea
Bermseok Oh, Ph.D.
- Center for Genome Science, National Institute of Health, Seoul, South Korea
Jong-Young Lee, Ph.D.
- Center for Genome Science, National Institute of Health, Seoul, South Korea
Kuchan Kimm, M.D., Ph.D.
- Center for Genome Science, National Institute of Health, Seoul, South Korea
Sook-Hwan Lee, M.D., Ph.D.
- Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul, South Korea
Kwang-Hyun Baek, Ph.D.
- Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, 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).

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.