Background: Type 2 diabetes (T2D), which is multifactorial, inherited and progressive chronic disorder, is characterised by hyperglycemia due to defects in insulin secretion and action. The sulfonylurea receptor (SUR1) and the insulin receptor (INSR) are critical elements in insulin-signalling pathways, and mutations in the SUR1 and INSR genes have been reported to have a role in determining susceptibility to T2D.
The aim was to study whether the -3 C/T polymorphism of the SUR1 gene exon 16 and His 1085 C/T polymorphisms of the INSR gene exon 17, increase the risk of T2D in type 2 diabetic subjects.
Material and methods: The group consisted of 214 patients with T2D and 216 healthy control subjects without any findings of glucose metabolism impairment. Genomic DNA was isolated from peripheral venous blood while analysis of 16-3 C/T and His 1085 C/T gene mutations were performed with polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). The study was approved by the local ethical committee and was in accordance with the principles of the Declaration of Helsinki.
Results: Our results show that polymorphism 16-3 C/T of SUR1 gene is a key factor that impacts the manifestation of T2D (P=0.0068). We observed no significant difference in INSR His 1085 C/T polymorphism distribution or allele frequencies between the two examined groups (P=0.7674).
Conclusion: These findings provide evidence which genes involve in T2D. Furthermore, our observations may help to better target various therapies that will be available in the future for the treatment of T2D.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology