Type 2 diabetes mellitus (T2DM) is a major public health problem around the world. The C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene have been reported to be associated with T2DM and its complications. This study is a case-control study which was performed to clarify the association between polymorphisms in these two genes and T2DM among Egyptians. Study population (n =120) consists of 60 Egyptian diabetic patients and 60 healthy controls. The MTHFR C677T and A1298C polymorphisms were genotyped by polymerase chain reaction, followed by enzymatic digestion with HinfI and MboII enzymes, respectively. C677T and A1298C genetic polymorphisms conveyed an increase in T2DM risk (OR=3.5, 95% CI=1.1–11.6, p =0.032 and OR=2.2, 95% CI=0.7–6.9, p =0.004 respectively). Additionally, no significant associations between lipid/glucose metabolic indexes with MTHFR genotypes among diabetic patients were observed. Combined MTHFR gene polymorphisms revealed higher T2DM risk in homozygous and heterozygous forms compared to single gene polymorphism with pronounced risk in C677T/CT-A1298C/CC combined form (OR=6.56, 95% CI=0.76–56.2, p 0.041). In conclusion, our data suggest that MTHFR C677T and A1298C polymorphisms are risk factor for T2DM in Egyptian patients. Also, the two gene polymorphisms may act synergistically to increase the risk of diabetes. Furthermore, it should be noted that the size of the studied population was relatively small and therefore, large-scale prospective studies are needed to confirm these findings.
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