胰岛素基因可变重复序列多态性与PCOS的相关性  

Polymorphism of Insulin Gene Variable Number Tandem Repeats Correlation with Polycystic Ovary Syndrome

作　　者：张琴芬[1] 韩素萍[2] 崔毓桂[2] 李瑛[3] 马翔[2] 高莉[2] 冒韵东[2] 刘嘉茵[2] 

机构地区：[1]东南大学附属中大医院妇产科,210009 [2]南京医科大学第一附属医院生殖医学科 [3]江苏省计划生育科学技术研究所

出　　处：《国际生殖健康／计划生育杂志》2010年第4期252-255,共4页Journal of International Reproductive Health/Family Planning

基　　金：国家自然科学基金(30800394);江苏省科技厅项目(BM2008151);江苏省医学重点学科(XK200702)

摘　　要：目的:探讨胰岛素基因可变重复序列(INS-VNTR)多态性与多囊卵巢综合征(PCOS)易感性之间的关系及其与PCOS发生胰岛素抵抗(IR)的相关性。方法:用聚合酶链反应-限制性片段多态性技术,检测130例PCOS患者(PCOS组)和130例非PCOS妇女(对照组)的INS-VNTR多态性。结果:2组的Ⅰ/Ⅰ、Ⅰ/Ⅲ和Ⅲ/Ⅲ基因型频率分布差别无统计学意义(P=0.196),经Logistic回归分析,Ⅲ/Ⅲ基因型并没有增加PCOS发病的危险性(OR=6.25,95%CI:0.74～52.79)。PCOS胰岛素抵抗亚组(PCOS-IR组,88例)相应位点的INS-VNTR基因型频率及等位基因频率均高于PCOS非胰岛素抵抗亚组(PCOS-NIR组,42例,P<0.05);PCOS患者中Ⅲ/Ⅲ基因型者的INS、IR状态高于Ⅰ/Ⅰ基因型者。结论:VNTR可能不是PCOS发病的易感基因,但是Ⅲ型INS-VNTR可能使PCOS患者发生IR的危险性增加。Objective：To investigate the correlation between the insulin gene variable number tandem repeats（INS-VNTR）and polycystic ovary syndrome（PCOS）and metabolic features related to insulin resistance（IR）.Methods：One hundred and thirty patients with PCOS（PCOS group）and 130 normal women（control group） were included.Genotyping of INS-VNTR was performed using polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）.Results：The distribution of genotype of INS-VNTR was similar in PCOS group,and compared with the Ⅰ/Ⅰ carriers,an odd ratio（OR） for Ⅲ/Ⅲ carriers was 6.25 [95% confidence interval（CI）=0.749-52.79].The distribution of genotype and the Ⅲ allele frequency of INS-VNTR in PCOS insulin resistance（PCOS-IR）group were significantly higher than that in PCOS non-insulin resistance group（PCOS-NIR）.Moreover,PCOS women with Ⅲ/Ⅲ had statistically significantly higher fasting insulin lever and HOMA-IR than that of PCOS women with Ⅰ/Ⅰ.Conclusions：INS-VNTR may not be a susceptibility gene,but INS VNTR polymorphism may play an important role in the occurrence of insulin resistance in patients with PCOS.

关 键 词：多囊卵巢综合征 胰岛素 多态现象 遗传 胰岛素抗药性 聚合酶链反应 多态性 限制性片段长度 串联重复序列 

分 类 号：R711.75[医药卫生—妇产科学]