Identification of nucleotide polymorphism within the NeuroD1 candidate gene and its association with type 1 diabetes susceptibility in Iranian people by polymerase chain reaction-restriction fragment length polymorphism

Objectives Diabetes is a serious disease, and the number of affected individuals with diabetes is considerably high. The aim of this study is the identification of NeuroD1 Ala45Thr polymorphism and its association with type 1 diabetes susceptibility in Iranian people. Methods Clinical and biochemical characteristics for 146 people (76 diabetics and 70 nondiabetics) were measured, such as fasting blood sugar, triacylglycerol, total cholesterol, age, and weight in each individual. Polymerase chain reaction-restriction fragment length polymorphism technique (MwoI restriction-enzyme) was used for genotyping of the NeuroD1 Ala45Thr polymorphism. Results In this study, the frequency of the A allele in diabetic patients in comparison with the healthy control group had a significantly higher percentage (p < 0.01), whereas diabetic patients had the AA genotype, approximately four times more than the healthy control group (p < 0.01). In addition, we observed that fasting blood sugar had a higher concentration in the AA genotype than in AG + GG genotypes (p < 0.01). Conclusions The A allele may be a risk factor for the expansion of type 1 diabetes in the Iranian population. However, the NeuroD1 Ala45Thr polymorphism and its role in type 1 diabetes in different populations are controversial.

Keywords: Ala45Thr polymorphism; NeuroD1; biochemical characteristics; type 1 diabetes.