Methylenetetrahydrofolate reductase polymorphism: An independent risk determinant of coronary heart disease in an endogamous population from Delhi (India)

SummaryBackground & aimsMethylenetetrahydrofolate reductase catalyzes the conversion of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate in the folate metabolic pathway. Of the numerous polymorphisms reported worldwide in this gene, C677T and A1298C are the most extensively studied with respect to various complex disorders. The present study attempts to understand the effect of these two polymorphisms on the causation of coronary heart disease in a Mendelian population of a specific geographical area in India.MethodsThe study was carried out using 100 cases and 100 age, sex, geography and ethnicity matched controls. Blood samples were subjected to biochemical and molecular analysis. Medical histories and anthropometric measurements were taken from all the enrolled subjects.ResultsCases and controls differed significantly (p-value <0.05) with respect to the polymorphisms at both the loci. Odds ratio revealed a significant 2.29 fold and 2.09 fold increased risk for coronary heart disease with regard to C677T and A1298C polymorphisms respectively.ConclusionThe study emphasizes that the MTHFR C677T and A1298C polymorphisms are independent risk factors for coronary heart disease in the selected community belonging to a specific geographical area of India.