A novel SNP at exon 17 of INSR is associated with decreased insulin sensitivity in Chinese women with PCOS

Molecular Human Reproduction
Li JinHe-Feng Huang

Abstract

To investigate the association of single-nucleotide polymorphisms (SNPs) in exon 17 of the insulin receptor (INSR) gene with insulin resistance and INSR beta-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 beta-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 beta-su...Continue Reading

References

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Citations

Jun 25, 2013·Journal of Assisted Reproduction and Genetics·Bhaskar Venkata Kameswara Subrahmanya LakkakulaUsha Rani Godla
Jan 27, 2015·International Journal of Molecular Sciences·Chun FengShi-Wen Jiang
Dec 19, 2012·Gene·Azita Zadeh-VakiliFereidoun Azizi
Jan 21, 2015·Trends in Endocrinology and Metabolism : TEM·Jan M McAllisterJerome F Strauss
May 18, 2016·Fertility and Sterility·Michelle R Jones, Mark O Goodarzi
Sep 13, 2018·Journal of Cellular Biochemistry·Mohammad Reza SalahshoorCyrus Jalili
Jun 13, 2017·Expert Review of Molecular Diagnostics·Kateryna MykhalchenkoRicardo Azziz
May 11, 2021·Reports of Biochemistry & Molecular Biology·Elaheh Seyed AbutorabiMaryam Bagheri

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