Objective: To detect the Calpain10 gene polymorphisms in North China families with type 2 diabetes and to investigate their association with type 2 diabetes.
Methods: PCR-RFLP method was used to test the polymorphisms of Calpain10 SNP43 (G/A) and SNP19 (1/2) in 801 individuals from 218 type 2 diabetes mellitus (DM) families, 211 type 2 diabetes patients without family history, and 127 normal control subjects in northern China.
Results: (1) The Calpain 10 SNP43 "G" allele frequency was 91.9% in the type 2 diabetic patients without family history, 92.7% in the probands from the type 2 diabetes families without linkage between the onset of DM and SNP43 site, and 95.3% in the probands from type 2 diabetes families with linkage evidence at SNP43, all significantly higher than that in the controls (85.8%, chi(2) = 6.39, df = 1,P = 0.011; chi(2) = 8.437,df = 1, P < 0.01); and chi(2) = 16.49, df = 1, P < 0.01). The distribution of polymorphism of the SNP19 site was not significantly different between the patients and control subjects. (2) Logistic regression analysis adjusted by BMI, sex and age showed that SNP43 G/G genotype was associated with type 2 diabetes. The odds ratios of the three group were OR = 1.78, P = 0.045; OR = 2.53, P = 0.008; OR = 4.32, P = 0.000 respectively.
Conclusion: SNP43 site of Calpain10 gene is related to type 2 diabetes. Calpain 10 gene may be a related gene of type 2 diabetes in Chinese.