Molecular epidemiology of the MTHFR C677T polymorphism and its association with type 2 diabetes mellitus at the University of Gondar Comprehensive Specialized Hospital

Background Type 2 diabetes mellitus (T2DM) is marked by chronic hyperglycemia from impaired insulin secretion and action. The MTHFR C677T variant, affecting folate metabolism and homocysteine, has been linked to T2DM, though evidence is inconsistent, especially in Ethiopia.Aim The objective of this study was to investigate the association of MTHFR C677T gene polymorphism and the risk of T2DM among patients treated at the University of Gondar Comprehensive Specialized Hospital.Subjects and methods A comparative cross-sectional study of 140 T2DM patients and 140 controls used non-random purposive sampling. Data included sociodemographic and lifestyle factors, clinical exams, and PCR-RFLP detection of the MTHFR C677T polymorphism. Analysis used chi-square and logistic regression. Results are reported as OR with 95% CI; p < 0.05 was significant.Results Individuals aged 30–44 and 45–59 had higher T2DM odds than those 18–29. Other risks were high blood pressure, family history, alcohol use, and smoking. Underweight showed higher but non-significant risk. MTHFR C677T was associated, with CT and TT increasing susceptibility vs CC. Vegetable intake and physical activity were not significant.Conclusion The study highlights integrating genetic profiling with targeted risk reduction. At-risk patients should adopt healthy lifestyles, undergo individualized T2DM screening, and avoid smoking and excess alcohol. Health facilities should strengthen screening and genetic counseling, with support from policymakers, researchers, NGOs, and community groups.