Frequency of Calpain-10 gen polymorphism in turkish population and effect of those polymorphisms on the development of type 2 diabetes mellitus

Type 2 Diabetes Mellitus is an important metabolic disease which influencesmore people throughout the world over years and of which genetic andenvironmental factors plays concurrent role in the pathophysiology. As the studies ondetermination of Human Genomic Map advance, genetic studies accelerating withinlast decade also lead to advances in the genetics of Type 2 Diabetes Mellitus. Withinthis context, an important issue among those studies is the Calpain-10, which is thefirst gene shown to have relation with Type 2 Diabetes Mellitus.The last product of Calpain-10 gene, Calpain-10 protein is a cysteineprotease. It is shown that Calpain-10 has function in the GLUT-4 mediated glucosetransport, insulin secretion via granule exocytosis from pancreatic ß cells and in theglucose membrane transport via its relation with the insulin receptor substrate-1. It isbelieved that polymorphisms in the Calpain-10 gene influences development of Type2 Diabetes Mellitus by causing changes in the aforementioned mechanisms,including effects on both insulin secretion and insulin resistance.There are worldwide clinical and molecular studies conducted on relation ofCalpain-10 gen with Type 2 Diabetes Mellitus. In most of those studies, it isrevealed out that SNP-19, -43 and -63 polymorphisms in the Calpain-10 gene may berelated with the development of Type 2 Diabetes Mellitus. Moreover, there also arestudies, where relation between Calpain-10 gene polymorphism and Type 2 Diabetes68Mellitus is not significant. Due to finding varying according to different ethnicalgroups and country populations and the importance of Calpain-10 gene in thegenetics of the diabetes, we planned this study aiming to determine frequency ofCalpain-10 gene polymorphism in the Turkish population and to highlight therelation of haplotypes and their combinations, which were not included in previousstudies conducted in our country, with the Type 2 Diabetes Mellitus.In our study, 118 patients with the diagnosis of Type 2 Diabetes Mellitus and93 patients without diagnosis of Type 2 Diabetes Mellitus serving as control groupwere recruited. In said two groups, SNP-19, -44 and -63 genotypes, alleledistribution and haplotype distributions of Calpain-10 gene were determined.Moreover, relations of those genotypes wth fasting blood glucose, postprandial bloodglucose, HbA1c, BMI and lipid profiles were examined.As a conclusion of current study, we found that considering SNP-44, -19 and-63 polymorphisms, risk for developing Type 2 Diabetes Mellitus is two times higherin individuals with the haplotype 121 and risk for developing Type 2 DiabetesMellitus is four times higher in individuals with the haplotype 122/121. In addition,we found that risk of developing Type 2 Diabetes Mellitus increases in male subjectswith T/T genotype in the SNP-44 polymorphism and body mass index issignificantly higher in male subjects with ins/ins genotype in comparison with othergenotypes in the SNP-19 polymorphism.