湖北汉族人2型糖尿病与Calpain10基因多态性的相关研究

目的探讨Calpain10基因对湖北汉族人2型糖尿病遗传易感性的影响。方法采用病例对照研究，以聚合酶链式反应联合限制性内切酶的多态性（PCR—RFLP）分子生物学技术，选择262例2型糖尿病患者作为试验组和262例血糖正常者为对照组，对其Calpainl0基因上的SNP43及SNPl9位点多态性进行分析。结果在2型糖尿病人群中，SNP43的G等位基因频率，与对照组相比（93．8％比79．97％），差异有统计学意义（P〈0．05）。而SNPl9位点等位基因频率在2组中的频率分布差异无统计学意义（P〉0．05）。此外，在本研究对照组中，SNP43GG基因型与体质量指数和腰一臀围比值增加相关。结论SNP43位点等位基因G在Calpain10基因中可直接或与其他糖尿病基因相互作用决定湖北汉族人2型糖尿病的遗传易感性。

Study on the role of Calpain 10 gene polymorphisms in the patients with type 2 diabetes in Ethnic Han in Hubei province

Objective To explore the effect of Calpain 10 gene on genetic susceptibility to type 2 diabetes in Hubei han Chinese. Methods A case-control study was carried out. 127 cases of normal controls and 262 cases of type 2 diabetes were enrolled in this study. Polymerase chain reaction combined with restriction enzymes of polymorphism （PCR-RFLP） was used to detect SNP43 and SNP19 polymorphisms on Calpain 10 gene site. Results SNP43 G allele frequency in the patients with type 2 diabetes was 93. 8%, compared with 79. 97% in the control group （P〈0. 05）.SNP 19 locus allele fre- quency showed no significant differences between two groups （P〉0. 05 ）. In addition, in the normal control group, SNP43 GG genotype was associated with body mass index and waist-hip ratio. Conclusions SNP43 loci alleles G in the Calpain 10 gene might determine the genetic susceptibility of type 2 diabetes mellitus in hubei han Chinese.