The prevalence of type 2 diabetes mellitus (T2DM) is rising dramatically in the Middle East, especially in the Islamic Republic of Iran, but the genetic basis of type 2 diabetes in Iran is poorly understood. Polymorphisms of hepatocyte nuclear factor-1α (HNF-1α) and glucagon-like peptide-1 receptor (GLP-1R) genes showed association with type 2 diabetes in several ethnic groups. In this study, we evaluated whether these markers confer susceptibility to T2DM in a diabetic population living in Mashhad (northeast of Iran). Genotyping of Ala98Val (HNF-1α) and Thr149Met (GLP-1R) was done by the restriction fragment length polymorphism-PCR (RFLP-PCR) method in the following groups: 1) early-onset diabetes (age at onset ≤ 35 years); 2) late-onset diabetes (age at onset > 35 years); and 3) control. Our results showed that CT (Ala/Val) genotype of HNF-1α was higher in the early-onset type 2 diabetic group compared to the controls but difference was not significant. We did not find the GLP-1R Thr149Met mutation in all participants. The prevalence of the HNF-1α (Ala98Val) and (GLP-1R) Thr149Met mutations has not been previously reported in Iranian participants. We conclude that these mutations are not a common cause of T2DM in our studied population.

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