The aim of this study was to investigate whether the rs12255372 (TCF7L2) and D76N (PDX-1) polymorphisms are associated with type 2 diabetes mellitus (T2DM) in Mashhad, northeast Iran. A hundred twenty seven patients with T2DM and 71 non-diabetic controls in Mashhad were genotyped by PCR-RFLP and ARMS-PCR methods. Single nucleotide polymorphisms (SNPs) were confirmed by sequencing in some samples and allelic and genotypic frequencies were then analyzed in each group. The T-allele of the SNP rs12255372 of TCF7L2 (OR = 2.70, 95% CI = 1.12–6.49, P = 0.027) and the A-allele of PDX-1 D76N (OR = 3.93, 95% CI = 1.60–7.68, P = 0.002) were significantly associated with an increased risk of T2DM. The rs12255372 SNP of TCF7L2 and D76N of PDX-1 genes may confer susceptibility to T2DM in the population living in Mashhad.

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