Evaluation of Sox2 genetic effect on the development of type 2 diabetes

Sox2 is a transcription factor, which plays an important role in the induction of pluripotent stem cells from somatic cells. The Sox2 gene is located in chromosome 3q26.33 and resides in a linkage region of diabetes. In the present study, we attempted to evaluate the genetic effect of Sox2 in the development of type 2 diabetes (T2D). A total of 1598 Swedish subjects of T2D, pre-diabetes and non-diabetic control subjects were enrolled in the present study. Genotyping experiments for allelic discrimination of SNP rs11915160 were performed with TaqMan allelic discrimination. Sox2 mRNA expression levels in pancreatic islets of T2D patients (n = 16) and control subjects (n = 8) were detected by using real time RT-PCR. Among the non-diabetic control subjects with and without family history of diabetes (FHD, i.e. at least one first degree relative with diabetes or at least two second degree relatives with diabetes), the A allele frequency in Sox2 rs11915160 were 12.3% and 12.9%. This allele frequency was increased to 13.4% in T2D patients with FHD selected from SDPP and 17.9% in the patients with FHD from Kronan study, while the patients without FHD had the allele frequency at 12.4%. The difference of mRNA expression levels of the Sox2 gene in pancreatic islets between T2D patients and controls was not statistically significant. The present study thus suggests that Sox2 is unlikely to exert the genetic effect on the development of T2D.