CAPN10基因单核苷酸多态性与西南地区人群2型糖尿病的相关性研究

A case-control study on the role of calpainl0 gene single nucleotide polymorphism in the genetic susceptibility to type 2 diabetes mellitus in southern Chinese Han population

目的:探讨calpain10基因单核苷酸多态性(Single nucleotide polymorphism,SNP)与西南地区汉族人群2型糖尿病(Type2diabetes mellitus,T2DM)遗传易感性的关系。方法:采用病例-对照研究设计,对144例T2DM患者和98例正常对照者采用双向等位特异性PCR技术(Bi-PASA),检测calpain10基因SNP43A/G位点、SNP44C/T位点和SNP56A/G位点的基因型,并进行关联分析。结果:与对照组相比,病例组SNP43的G/G等位基因型频率、SNP44的C/T等位基因型频率和SNP56的A/A等位基因型频率显著升高(分别为86.11%,73.5%;36.8%,19.36%;38.0%,9.8%)。SNP43的G等位基因频率、SNP44的C等位基因频率和SNP56的A等位基因频率在西南地区T2DM人群中显著升高(分别为93.06%,86.22;19.1%,9.69%;60.07%,44.96%);单体型ATG、GCA、GTG频率在病例组与对照组的分布具有显著差异。结论:calpain10基因可能为西南地区汉族人群T2DM的易感基因。

Objective： To test the hypothesis that calpainl0 gene could contribute to the genetic susceptibility to type 2 diabetes mellitus（T2DM） in southern Chinese Han population. Methods： In this case-control study,Bi-PASA method was used to determine the distribution of allele and genotype frequencies of SNP43 polymorphism（A/G）,SNP44 polymorphism（C/T）and SNP56 polymorphism（A/G）in Calpainl0 in 144 type2 diabetes patients and 98 normal control subjects. Results： The genotypes frequencies of SNP43 G/G,SNP44 C/T and SNP56 A/A were significant increased in case group,as compared with the control group（86.11% vs 73.5% ;36.8% vs 19.36 % ;38.0% vs 9.8% , respectively ）.The frequencies of SNP43 G-allele,SNP44 C-allele and SNP56 A-allele in T2DM patients were significantly increased as compared with that in the control subjects （93.06% vs 86.22;19.1% vs 9.69% ;60.07% ,44.96% respectively）;The haplotype frequencies of ATG,GCA and GGT were significanty different between T2DM patients and control subjects. Conclusion： The study suggested that Calpain10 gene might contribute to the genetic susceptibility to T2DM in southern Chinese Hart population.