Calpain10基因多态性与昆明地区人群2型糖尿病相关性研究

目的 探讨Calpain10基因多态性与昆明地区人群2型糖尿病遗传易感性的关系。方法采用病例-对照研究设计，以聚合酶链式反应-等位基因特异性扩增法（PCR-ASA），检测Calpain10基因单核苷酸多态性（SNP）43G／A位点和SNP44T／C位点基因型，并进行关联分析。结果 对131例2型糖尿病患者和131例正常对照进行了Calpain10基因SNP43和SNP44基因分型，与对照组相比，SNP43的G等位基因频率和SNP44的C等位基因频率在昆明地区2型糖尿病人群中显著升高（分别为93．13％，86．26％，P=0．0097；18．70％，9．92％，P=0．004）。结论 Calpain10基因SNP43位点G等位基因和SNP44位点C等位基因可能与昆明地区人群2型糖尿病的发病相关。

A Case-control Study on the Role of Calpain10 Gene Polymorphism in the Genetic Susceptibility to Type 2 Diabetes in Plateau population in Kunming

Objective To test the hypothesis that Calpain10 gene could contribute to the genetic susceptibility to type 2 diabetes in plateau population.Methods In this case-control study,PCR-ASA method was used to determine the distribution of allele and genotype frequencies of SNP43 polymorphism(G/A)and SNP44 polymorphism(T/C)in the intron 3 of gene Calpain10 in 131 type2 diabetes patients and 131 normal control subjects.Results The frequencies of SNP43 G-allele and SNP44 C-allele in type 2 diabetes patients were significantly increased as compared with that in the control subjects(93.13% vs 86.26%,P=0.009 7;18.70% vs 9.92%,P=0.004).Conclusion The study suggested that Calpain10 gene might contribute to the genetic susceptibility to type 2 diabetes in plateau population in Kunming.