11β-类固醇脱氢酶Ⅰ型基因微卫星多态性与2型糖尿病的相关性研究

Relationship between microsatellite marker within the gene encoding human 11β-hydroxysteroid dehydrogenases type 1 (11β-HSD1) and type 2 diabetes

目的:探讨南京地区汉族人群中11β-类固醇脱氢酶Ⅰ型基因多态性与2型糖尿病的相关性。方法:选择11β-类固醇脱氢酶Ⅰ型基因内含子4内高杂合度微卫星DNA多态标记,应用聚合酶链反应及变性聚丙烯酰胺凝胶电泳技术,探讨这一微卫星多态在中国南京汉族人群121例正常健康者和150例2型糖尿病患者之间等位基因频率分布差异。结果:该多态位点存在8种等位基因,CA重复序列分别重复13、14、15、16、17、18、19和20次,病例-对照群体分析结果表明,两组间等位基因频率总体分布差异无显著性(χ2=8.9944,Ρ=0.253)。但(CA)15等位基因糖尿病组频率高于正常组,有统计学意义(χ2=4.990,P=0.025),可以初步认为(CA)15等位基因可能是糖尿病发生的危险因素。结论:南京地区汉族人群中11β-类固醇脱氢酶Ⅰ型基因多态性可能与2型糖尿病有一定关系。

Objective： To explore the relationship between microsatellite DNA polymorphism of human 11beta-hydroxysteroid dehydrogenases type 1 and type 2 diabetes within a Chinese population. Methods： 150 patients with type 2 diabetes and 121 nondiabetic subjects were collected randomly among Han Chinese in Nanjing. Polymorphism of microsatellite marker within intron 4 of 11β- HSD1 was detected by polymerase chain reaction, polyacrylamide gel electrophoresis and silver staining to investigate the frequency distributions of 11 beta-HSD1 microsatellite（CA）n in two groups. Results： In two groups, CA-repeat numbers in eight types of alleles were 13,14,15,16,17,18,19 and 20, respectively. The prevalence of 11beta-HSD gene allele frequencies in patients with type 2 diabetes was not significantly different from that in control subjects （χ^2 = 8.9944, P = 0.253）. However, the prevalence of （CA）15 allele gene frequencies in patients with type 2 diabetes was significantly different from that in control subjects （χ^2 = 4.990,P = 0.025）. Conclusion： Polymorphism of microsatellite markers in 11beta-HSD1 may be associated with type 2 diabetes in Han Chinese.