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.


METHODS
Case-control study.


METHODS
University-based hospital.


METHODS
134 patients with PCOS and 100 healthy women as controls.


METHODS
All exons of INSR in DNA samples from 100 healthy women and 134 women with PCOS were sequenced and compared.


METHODS
Frequencies of genotypes for several SNPs in INSR gene that were found as specifically expressed SNPs in a Korean population.


RESULTS
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.


CONCLUSIONS
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.
Lee
Eung-Ji
EJ
Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul, South Korea.
Oh
Bermseok
B
Center for Genome Science, National Institute of Health, Seoul, South Korea.
Lee
Jong-Young
JY
Center for Genome Science, National Institute of Health, Seoul, South Korea.
Kimm
Kuchan
K
Center for Genome Science, National Institute of Health, Seoul, South Korea.
Lee
Sook-Hwan
SH
Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul, South Korea.
Baek
Kwang-Hyun
KH
Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul, South Korea. Electronic address: baek@cha.ac.kr.
D015703:Antigens, CD / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007723:Korea; D011085:Polycystic Ovary Syndrome / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011972:Receptor, Insulin / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics
D015703:Antigens, CD; C435941:INSR protein, human; D011972:Receptor, Insulin