Calpain 10基因与新疆维吾尔族2型糖尿病遗传易感性研究

研究Calpain 10基因单核苷酸多态性（SNP）43G-A和63C-T两个位点与新疆地区维吾尔族人群2型糖尿病（Type 2 diabetes mellitus,T2DM）之间的关系。采用1∶1病例——对照研究方法,以聚合酶链式反应——限制性内切酶长度多态性（PCR-RFLP）技术,对120例T2DM患者和120例正常对照者Calpain 10基因SNP43、SNP63多态性位点进行基因分型。SNP43多态性位点的基因型和等位基因频率在病例组和正常对照组中的分布存在差异,T2DM组中GG基因型和等位基因频率均低于对照组,但是A等位基因频率高于对照组,差异有统计学意义（P〈0.005）;SNP63多态性位点的基因型频率和等位基因频率在病例组和正常对照组中的分布无显著差异,（P〉0.005）。结果表明：（1）Calpain 10基因SNP43多态性位点与新疆地区维吾尔族人群T2DM有明显相关性;（2）SNP63多态性位点与新疆地区维吾尔族人群T2DM无明显相关性。

The Role of Calpain 10 Gene Polymorphism in the Genetic Susceptibility to Type2 Diabetes in XinJiang Uigur Population

objective to investigate the correlation between single nucleotide polyrnorphisms（SNP43 and SNP63） of Calpain 10 gene and type 2 diabetes in XinJiang Uigur Population. Method A 1 ： 1 Matched Case-control Study was conducted with 120 cases of type 2 diabetes and 120 population-based controls. Calpain 10 gene polymorphisms genotypes were detected by PCR-RFLP. Result the distribution of genotype and allele frequencies of the SNP43 polymorphism were different in diabetes and control groups. The GG genotype and allele frequencies of type 2 diabetes groups is lower than control groups, but A allele frequencies is higher than control groups. There were significant differences in diabetes and control groups （P 〈 0. 005 ）. The distribution of the genotype and allele frequencies of the SNP63 polymorphism were not different in diabetes and control groups（P 〉0. 05） . Conclusion （1）The results suggest that the SNP43 in Calpain 10 gene were associated with type 2 diabetes in XinJiang Uigur Population; （2）the SNP63 in Calpain 10 gene were not associated with type 2 diabetes in XinJiang Uigur Population.