Assessment of gene Polymorphism of Methylenetetrahydrofolate Reductase (MTHFR) A1298C and Complications among cases with Type 2 Diabetes

Abstract

Background: Type 2 diabetes mellitus (T2DM) is a major public health problem around the world. MTHFR gene, located on chromosome 1 (1p36.3), encodes for methylenetetrahydrofolatereductase enzyme. one of the most investigated polymorphisms in the MTHFR gene is A1298C (rs1801131). This polymorphism 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 polymorphism in this gene and T2DM among Egyptians

Patients and Methods: A whole number of 102 individuals were selected, classified into two groups: group (1) were 51 healthy subjects, group (2) were 51 diabetic patients. This group was further subdivided into: Diabetic group without complications and  Diabetic with complications . MTHFR gene polymorphism(rs1801131)  was genotyped with restriction fragment length polymorphism method(PCR-RFLP), followed by enzymatic digestion with HinfI.

Results: A1298C genetic polymorphisms conveyed an increase in T2DM risk (OR = 2.2, 95% CI = 0.7–6.9, p = 0.004). Additionally, MTHFR 1298 AC+CC genotypes were associated with increased risk (2 fold) for diabetic complications.

Conclusion: our data suggest that MTHFR A1298C polymorphisms is risk factor for T2DM and its complications in Egyptian patients.Furthermore, because the size of the examined population was very small, large-scale prospective investigations are required to validate these findings.