Role of tmprss6 (v736a) gene polymorphism in the hematologicindexes and the risk of type 2 diabetes in an Iranian population

Background: Transmembrane protease serine 6 (TMPRSS6) regulates iron homeostasis by inhibiting the expression of Hepcidin. Multiple common variants in TMPRSS6 were significantly associated with serum iron and hematology Indexes. Recent genome wide association studies indicated that hematologic Indexes differenced in Type 2 diabetes (T2D). The present study aimed to investigate the possible associations between TMPRSS6 polymorphism, rs855791, and susceptibility to T2D. Design: The study set to determine whether the TMPRSS6 single nucleotide polymorphism (SNP) rs855791 (V736A) was associated with blood hemoglobin, Hematocrit, serum iron concentrations, and risk of T2D in individuals in Southeast of Iran. To investigate genetic polymorphism, 500 unrelated (250 T2D and 250 Healthy controls (HCs)) Iranians were selected. Genotyping of rs855791 (V736A) in the TMPRSS6 gene variant was performed using Allele-Specific Polymerase Chain Reaction (AS-PCR). Results: The TMPRSS6 rs855791 (V736A) was not significantly associated with T2D (P =0.41, P=0.34 for TC, CC genotype, respectively). But, in evaluation between genotypes (TT and TC + CC) of this SNP and the clinical and demographic data were showed significant difference in Sex, hemoglobin (Hb) and Hematocrit in T2D(0.025, 0.025 and 0.027 respectively) and Hb (0.013)in HCs. Conclusions: These findings suggest that TMPRSS6 variant were not significantly associated with type 2 diabetes in a sample of Iranians thus further studies with various ethnics and larger sample sizes are necessary to verify our findings.