胰岛素基因多态性与多囊卵巢综合征的相关性研究

目的:研究胰岛素(INS)基因多态性与多囊卵巢综合征(PCOS)发病间的相关性。方法:PCOS(216例)和非PCOS(192例,正常对照组)患者记录月经周期,计算BMI,检测其血清生殖激素,采用PCR法,分析INS基因多态性。结果:①与其他人种相比,中国人INS中T等位基因频率较低(7.3%)。②PCOS患者INS的A/A,A/T,T/T基因型分布(分别为0.894,0.097,0.009)与非PCOS人群的分布(分别为0.859,0.135,0.005)无显著差异。③PCOS组中,基因型A/T患者总睾酮(T)值显著高于其他2种基因型的T值,而初潮年龄、BMI和其他血清生殖激素值在各基因型间无显著差异。正常对照组中,BMI及生殖激素在各基因型间均无显著差异。结论:INS-23/HphⅠ单核苷酸多态性与中国汉族女性PCOS发病无相关性,但A/T等位基因的表达可能会影响雄激素水平。

Relationship between the Insulin Gene Polymorphism and Polycystic Ovary Syndrome

Objective: To investigate the association of the insulin gene polymorphism and the risk of PCOS. Methods: Total DNA was extracted by Chelex-100 from blood samples of 216 PCOS women (PCOS group) and 192 normal women (the control). INS gene-23/Hph I polymorphism was detected by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) analysis. Results: 1) In general, Chinese population had lower INS T allele frequency (7.3%) as compared with other ethnicities. 2) The genotypic distributions of INS (AA, AT, TT) in women with PCOS (0.894, 0.097, 0.009, respectively) did not differ from those in the control (0.859, 0.135, 0.005, respectively). 3) The BMI and FSH, LH, LH/FSH, T levels in serum of PCOS group were obviously higher than those of the control. 4) There were no significant differences of menarche age, BMI and FSH, LH, LH/FSH, E2, PRL levels in serum between different genotypes of PCOS group in INS 23/Hph I polymorphism except for the T level in serum. The T level of samples with A/T genotype was obviously higher than that in other patients in PCOS group, but in the control there were no significant differences of BMI and reproductive hormone levels among the patients with all kinds of genotypes. Conclusion: There is no association of INS-23/Hph I polymorphism with PCOS in Chinese women. But the expression of the A/T allele probably has an effect on the level oft estosterone.