MTHFR C677T polymorphisms among the Ahirs and Jats of Haryana (India)

Methylenetetrahydrofolate reductase (MTHFR) is a vital enzyme catalyzing the nicotinamide adenine dinucleotide phosphate (NADPH) linked reduction of 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate, which serves as cofactor in methylation of homocysteine to methionine. Three clinically important mutations of the MTHFR gene namely C677T, A1298C, and T1317C are reported to be associated with various pathological conditions. The present study deals with the screening of C677T mutation among two endogamous groups viz. Ahirs and Jats of Haryana (India). The mutation is reported to be significantly associated with thrombosis, hypertension, stroke and myocardial infraction, neural tube defects (NTDs), and recurrent pregnancy loss. The T allele among Jats is found to be more frequent (0.06) than Ahirs (0.03). Moreover, the Jats population shows a significant deviation from Hardy-Weinberg equilibrium with respect to C677T mutation. This could probably be due to some selection pressure operating in the population.