Calpain 1 O基因多态性与中国人2型糖尿病遗传易感性的相关性研究

目的 了解Calpain 10基因对中国汉族人2型糖尿病遗传易感性的影响。方法 采用病例对照研究方法：以聚合酶链式反应－限制性内切酶长度多态性（PCR－RFLP）技术，对211例2型糖尿病患者及127例正常对照Calpain 10基因SNP43及SNP19多态性进行基因分型。结果 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（91．9％ vs 85.8%,P=0.01)。但SNP19位点等位基因频率在上述两组中的频率分布无显著差异。此外，本研究还观察到在正常对照组中，SNP43GG基因型与体重指数和腰－臂围比值增加相关。结论 Calpain 10基因SNP43位点G等位基因可直接或与其他糖尿病基因相互作用决定汉族人2型糖尿病的遗传易感性。

The role of calpain10 gene polymorphism in the genetic susceptibility to type 2 diabetes in Chinese population

Objective To test the hypothesis that calpain 10 gene (CAPN 10) contributes to the genetic susceptibility to type 2 diabetes in Chinese population.Methods Case control study. PCR RFLP method was used to determine the distribution of allele and genotype frequencies of SNP43 polymorphism (G/A) and SNP 19 polymorphism (1/2) in the intron 3 of calpain 10 gene in 211 type 2 diabetes patients and 127 normal control subjects. 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 (91.9% vs 85.8%, P =0.01). The distribution of allele and genotype frequency of the SNP19 (1/2) polymorphism were equal in diabetes and control groups.In addition, we also observed the association between GG genotype and increased body mass index and waist to hip ratio in the control group.Conclusion This study suggested that calpain 10 gene may contribute to the genetic susceptibility of type 2 diabetes in Chinese population.