MTHFR C677T Polymorphism among a caste and a tribal population of Mount Abu (Rajasthan)

Methylenetetrahydrofolate reductase enzyme gene, essential for folate metabolism, is found to be associated with risk factors for several complex disorders via micronutrient deficiencies. In Indian context, population specific dietary habits are further influenced by environmental as well as economic background of a population. Hence, it becomes essential to assess the effects of dietary patterns of populations on genetics. The main focus of the presentstudyis to find out the status and extent of MTHFR C677T polymorphism among Bhils (n=100) and Rajputs (n=102) of Sirohi district, Rajasthan. Further, it also tries to compare them to reveal the population specific differences with respect to MTHFR C677T. The results, for which, showed that both the populations are in Hardy-Weinberg equilibrium with respect to MTHFR C677T polymorphism. T allele frequency is found to be 0.06 among Bhils and 0.17 among Rajputs with significant difference (p value= <0.001). Gender-based and age-based trends of distribution are also found to be different in both the studied population. Higher frequency of T allele among Rajputs than Bhils may be attributed to comparatively higher economic status, better nutritional quality and European admixture of the former, which has given rise to the present observed pattern and distribution of the allele.