钙蛋白酶10基因多态性与汉族人2型糖尿病遗传易感性的相关性研究

目的:探讨钙蛋白酶基因(Calpain-10,CAPN-10)单核苷酸多态性SNP43、SNP19与2型糖尿病(T2DM)遗传易感性的关系。方法:采用随机病例-对照研究(Case-Control)设计,从2型糖尿病患者外周血有核细胞中提取基因组DNA,用聚合酶链反应(PCR)、限制性片断长度多态(RFLP)等分子遗传学方法,在随机抽取的100例2型糖尿病患者和97例无糖尿病家族史的健康对照中检测多态性候选基因;通过Case-Control比较,统计分析这些基因多态性在2型糖尿病人群和正常人群中的分布特点及这些基因多态性与安徽省铜陵地区人群中2型糖尿病的关联性。结果:①同对照组相比,SNP43的G等位基因频率在2型糖尿病人群中显著升高(82.0%vs72.2%,P<0.05).GG基因型频率(73.0%)也显著高于对照组(55.6%)。G等位基因和GG基因型在两组中差异具有统计学意义(P<0.05)。②SNP19基因频率在上述两组中的频率分布无显著差异,但是其等位基因频率在两组中频率分布却呈显著性差异(P<0.05)。结论:①Calpain-10基因SNP43位点G等位基因直接或间接与汉族人2型糖尿病的遗传易感性相关。②未发现CAPN-10基因SNP19多态性与2型糖尿病遗传易感性相关,但是SNP19等位基因Allele1和Allele2却显示可能直接或间接决定2型糖尿病的遗传易感性。

Role of calpain-10 gene polymorphism in genetic susceptibility in type 2 diabetes mellitus in Chinese Han population

Objective:To investigate the impact of calpain-10(CAPN-10) gene combined single nucleotide polymorphism(SNP) variation on type 2 diabetes(T2DM).Methods:By case-control design, we randomly studied 100 unrelated subjects with type 2 diabetes(cases) and 97 non-diabetes (controls), who were selected from the population of Tongling, Anhui province. PCR-RFLP method was used to determine the distribution of allele and genotype frequencies of SNP43 polymorphism (G/A) and SNP19 polymorphism (1/2) in the intron 3 of calpain 10 gene. Results:The frequency of G allele of the SNP43 in type 2 diabetes patients was significantly increased as compared with that in the control subjects (82% vs 72%,P<0.01)and genotypic frequency of GG(73% vs 56%,P<0.05). But no association was found for the polymorphisms in the genes for the SNP19 polymorphisms in CAPN-10 gene. Conclusion:Calpain-10(CAPN-10) gene combined SNP43 may directly or indirectly contribute to the genetic susceptibility of type 2 diabetes,whereas the SNP19 polymorphisms in CAPN-10 gene have no close association with type 2 diabetes in the population of Tongling, Anhui province.