Methylenetetrahydrofolate Reductase Gene Polymorphisms In Egyptian Patients With Type 2 Diabetis Mellitus

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 methylenetetrahydrofolate reductase enzyme. Two of the most investigated polymorphisms in the MTHFR gene are C677T(rs1801133) and A1298C (rs1801131). These polymorphisms 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.

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. MTHFR gene polymorphism (rs1801133) and(rs1801131) were genotyped with polymerase chain reaction, followed by enzymatic digestion with HinfI and MboII enzymes, respectively.

Results: C677T and A1298C genetic polymorphisms conveyed an increase in T2DM risk (OR = 5.98, 95% CI = 1.24–28.83, p = 0.03 and OR = 1.97, 95% CI = 0.61–6.36, p = 0.005 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 = 9.3, 95% CI = 1.12–77.38, p 0.04).

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, because the size of the examined population was very small, large-scale prospective investigations are required to validate these findings