尾加压素Ⅱ的基因多态性与2型糖尿病的相关性研究

1、尾加压素的基因多态性与2型糖尿病的相关性研究硕士研究生：王慧卿 导师：蒋绿芝 教授单位：昆明医学院第二附属医院内分泌科 中 文 摘 要目的：探讨尾加压素（U-）的基因多态性和昆明地区汉族人群的2型糖尿病患者胰岛素抵抗的关系。方法：以中国昆明地区汉族人群246例为研究对象，其中包括80例健康对照组和166例2型糖尿病患者。（1） 放射免疫法检测实验组的空腹血清胰岛素（FINS）、糖化血红蛋白（GHbA1c）等。（2） 用聚合酶链反应/限制性片段长度多态性分析（PCR/RFLP）检测U-基因型，比较对照组和2型糖尿病组间的基因型和等位基因频率，并分析其与2型糖尿病患者中胰岛素抵抗的关系。（3） 用

2、自我平衡模型分析法（HOMA）评价胰岛素抵抗（IR）。结果：（1）、检测到昆明地区汉族人群U-基因S89N在正常对照组野生型GG（用Ser/Ser代替）56例（70），突变杂合型GA（Ser/Asn）是19例（23.8），突变纯合型AA（Asn/Asn）5例（6.2），而2型糖尿病组Ser/Ser为83例(占50.0%), Ser/Asn 67例（40.4）Asn/Asn是16例（9.6），应用行×列表资料的X2检验分析：X28.809，P=0.012，差异显著。（2）、将昆明地区汉族人群U-基因S89N的基因型和临床收集的实验组资料进行统计分析，结果发现Asn/Asn基因型和Asn

3、的等位基因和空腹胰岛素及胰岛素抵抗指数都呈显著相关。结论：（1）、U-基因的S89N多态性和昆明地区汉族人群的2型糖尿病的发生有关。U-基因的89N可能是2型糖尿病的易感基因。（2）、U-基因的S89N多态性和胰岛素抵抗相关。 关键词：尾加压素、单核苷酸基因多态性、胰岛素抵抗、2型糖尿病A Study of the association between Polymorphism of urotensingene and type 2 diabetes mellitus in Chinese subjects Wang Hui-qing; Jiang Lv-zhi Endocrinology

4、Department of the Second Affiliated Hospital of Kunming Medical College. Yun Nan, 650031, China abstractObjective: To investigate the association between the polymorphism of urotensin gene and type 2 diabetes mellitus in Kun Ming. method: We surveyed SNPs in the urotensin gene in 166 Kun Ming subjec

5、ts with Type 2 diabetes mellitus who met the criteria of the World Health Organization（WHO） and control cohort consisting of 80 subjects.（1）detect the fasting insulin and in experimental group using radioimmunoassay.（2）PCR-RFLP（restrict enzyme fragment length polymorphism）was used to examine the SNP

6、s.（3）homeostatic model assessment for insulin resistance (HOMA)-IR were also determined. Result: We identified the SNPs with amino acid substitution in the urotensingene,designated S89N in control subjects and type 2 diabetic patients.（1） In the type 2 diabetes group, Asn/Asn genotype frequency (9.6

7、%) and Asn allele frequency (29.8%) was higher than in normal controls (6.2% and18.1%, respectively).（2）In the type 2 diabetes group, the fasting insulin and HOMA-IR level of carriers of the Asn/Asn or Asn/Ser genotype were higher than those of the Ser/Ser genotype. Conclusion: These results suggest that the S89N polymorphism in the urotensingene is associated with the type 2 diabetes mellitus in Kun Ming，and what's more, the S89N polymorphism in the urotensingene has related