Jin Li, Huang He-feng, Jin Fan, Qian Yu-li
Department of Gynaecology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
Zhonghua Fu Chan Ke Za Zhi. 2005 May;40(5):323-6.
To investigate insulin receptor (INSR) genotype exon 17 frequencies in women with polycystic ovary syndrome (PCOS) and to elucidate its role in the pathogenesis of PCOS.
The study involved 33 women with PCOS and 28 healthy control women who were genotyped for polymorphism of INSR gene exon 17 by single strand conformation polymorphism (SSCP) analysis. Body mass index (BMI), insulin sensitive index (ISI), the expression of INSR beta subunit, and serum concentration of luteinizing hormone (LH), total testosterone between the genotypes were compared.
(1) The T-to-C mutation was observed in the INSR gene exon 17 (1008 bp). The frequency of the C/C genotype was significantly higher in patients (39%) than in the controls (11%) (P < 0.05). There was no significant difference in the distribution of genotypes between obese PCOS and non-obese PCOS, and between PCOS with insulin resistance (IR) and PCOS without IR. (2) In comparison of mutation genotype groups with wild genotype (T/T), ISI was significantly decreased (C/C genotype, P < 0.01; C/T genotype, P < 0.05), and no significant difference was observed in the other indices.
There is polymorphism in INSR gene exon 17 in patients with PCOS. This variant leads to increased risk of IR in women with PCOS. It does not influence the expression of INSR beta subunit.
研究多囊卵巢综合征（PCOS）女性胰岛素受体（INSR）基因外显子17的基因型频率，并阐明其在PCOS发病机制中的作用。
本研究纳入33例PCOS女性和28例健康对照女性，采用单链构象多态性（SSCP）分析对INSR基因外显子17的多态性进行基因分型。比较各基因型之间的体重指数（BMI）、胰岛素敏感指数（ISI）、INSRβ亚基的表达以及黄体生成素（LH）、总睾酮的血清浓度。
（1）在INSR基因外显子17（1008 bp）中观察到T到C的突变。患者中C/C基因型的频率（39%）显著高于对照组（11%）（P<0.05）。肥胖PCOS与非肥胖PCOS之间，以及伴有胰岛素抵抗（IR）的PCOS与不伴有IR的PCOS之间，基因型分布无显著差异。（2）与野生基因型（T/T）相比，突变基因型组的ISI显著降低（C/C基因型，P<0.01；C/T基因型，P<0.05），其他指标未见显著差异。
PCOS患者INSR基因外显子17存在多态性。这种变异导致PCOS女性发生IR的风险增加。它不影响INSRβ亚基的表达。
