Study On Association Of Calpain 10 Polymorphism With Type 2 Diabetes Mellitus In Uigur Population In Xinjiang

Objective :To examination the gene polymorphism distribution of TNFα-308 G�'A variation and Calpain10 gene (SNP43G/A, SNP63C/T).To investigate the genetic susceptibility TNFα-308 G�'A gene mutation and single nucleotide polymorphisms (SNP43 and SNP63) of Calpain 10 gene with type 2 diabetes in XinJiang Uigur PopulationMethod: 1:1 Matched Case-control Study was conducted with 120 cases of type 2 diabetes and 120 population-based controls in XinJiang Uigur Population. TNFαand Calpain 10 gene polymorphism genotypes were detected by PCR-RFLP. The serum TNFαconcentration was measured by ELISA in all of subject.The relationship between the heredity porlymorphism of TNFαand Calpain 10 gene and type 2 diabetes susceptibility, the date was analysed with statistics software of the SPSS 11.0 , The odd ratios (OR) and the 95% confidence interval (CI) represent the relative risk. We analyse the 240 samples'gene porlymorphism (including 120 normals and 120 patients) and discuss of the Uigur Population. At last we analyse the data and verify the samples'population representativeness with the Hardy—Weinberg equilibration law. Theχ2 test was adopted to check the difference in genotype distribution between patients and controls, and the accordance with Hardy-Weinberg equilibrium in the groups.Result: (1)The average value of TNFαconcentration was (28.66±15.28 ) pg/mL in disease group; The average value of TNFαconcentration was (22.73±14.24)pg/mL in control group, Serum TNFαconcentration in disease group was significantly higher than that of the control group (P<0.05).(2) The distribution of genotype of TNFα-308 in case/control group was as follows: GG 89/104 (74%/87%);GA+AA 31/16 (26%/13%); The distribution of the G and A allele in case/control group was as follows:;G allele 209/224 (87%/93%);A allele 31/16 (13%/6%). The distribution of genotype frequencies and allele frequencies of the TNFα-308 polymorphism has significant difference in diabetes and control groups (P<0.05).(3) The serum TNFαconcentrations of these three genotypes of TNFα-308 were as follows : GG (22.11±2.23 )pg/mL,GA+AA (29.78±3.26)pg/mL, there were significant differences among these three genotypes. The genotype GA+AA is higher than GG in the serum TNFαconcentrations (P<0.05).(4) The distribution of genotype of SNP43 in case/control group was as follows: GG 86/101 (72%/84%);GA 26/16 (22%/16%),AA 8/0 (6%/0%);The distribution of the G and A allele in case/control group was as follows:;G allele 221/198 (92%/83%);A allele 19/42 (8%/18%) . The distribution of genotype frequencies and allele frequencies of the SNP43 polymorphism has significant difference in diabetes and control groups (P<0.05). (5) The distribution of genotype of SNP63 in case/control group was as follows: CC 61/62 (51%/52%);CT 42/33 (35%/28%),TT 17/25 (14%/21%); The distribution of the T and C allele in case/control group was as follows: C allele 164/157 (68%/65%);T allele 76/88 (32%/37%). The distribution of genotype frequencies and allele frequencies of the SNP63 polymorphism were not different in diabetes and control groups (P>0.05).Conclusion: (1) There is significant difference of the serum TNFαconcentration in case/control group. The level of serum TNFαhas significant positively correlated with type 2 diabetes in Xinjiang Uygur people. (2) The TNFα-308 gene were associated with type 2 diabetes in XinJiang Uigur Population; (3) The results suggest that the SNP43 in Calpain 10 gene were associated with type 2 diabetes in XinJiang Uigur Population; (4) the SNP63 in Calpain 10 gene were not associated with type 2 diabetes in XinJiang Uigur Population.