Mol. Hum. Reprod. Advance Access originally published online on March 1, 2006
Molecular Human Reproduction 2006 12(3):151-155; doi:10.1093/molehr/gal022
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A novel SNP at exon 17 of INSR is associated with decreased insulin sensitivity in Chinese women with PCOS
Department of Reproductive Endocrinology, Women’s Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
1 To whom correspondence should be addressed at: Department of Reproductive Endocrinology, Women’s Hospital, Zhejiang University School of Medicine, 2 Xueshi Road, Hangzhou, Zhejiang 310006, China. E-mail: huanghefg{at}hotmail.com
To investigate the association of single-nucleotide polymorphisms (SNPs) in exon 17 of the insulin receptor (INSR) gene with insulin resistance and INSR ß-subunit expression in polycystic ovary syndrome (PCOS) patients, a case-control study was carried out in an academic endocrinology clinic of China. One hundred and nine Chinese patients with PCOS and 107 healthy Chinese women as control were recruited. Their leukocytes and red blood cells were separated from blood samples, for SNP analysis with single-stranded conformation polymorphism and for the INSR ß-subunit expression detection by western blot analysis, respectively. A novel T/C SNP at codon Cys1008 (position 3128 of NM_000208) of INSR was found in two allele genotypes, i.e. the homozygous CC and the heterozygous TC. A higher frequency of the mutant homozygous CC was observed in the PCOS women with PCOS than that in the controls (21.1 versus 5.6%, P < 0.01). In contrast with the women with wild-type genotype, a significantly lower insulin sensitivity index in the women with each of the two mutant genotypes was revealed (CC: 0.335 ± 0.026/TC: 0.346 ± 0.027 versus TT: 0.367 ± 0.029, P < 0.05). No relationship was found between the novel SNP and the INSR ß-subunit expression. We concluded that the novel T/C SNP at codon Cys1008 of INSR is associated with decreased insulin sensitivity in Chinese women with PCOS and that the association is not by the change of synthesis or secretion of INSR ß-subunit, but most possibly by the effects of this novel SNP on the function of INSR ß-subunit.
Key words: insulin receptor/insulin resistance/polycystic ovary syndrome/single-nucleotide polymorphism
* The authors equally contributed to this work.
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