Genetic analysis of MTR and MTRR gene polymorphisms in healthy mothers from Eastern part of India

Abstract

The polymorphic variation of MTR and MTRR genes can influence the folate metabolism and homeocysteineremethylation processes and consequently has strong impact on Neural Tube Defects (NTD). The SNP of MTR and MTRR genes has been reported in some populations, but in the Indian population has never been explored. This study is focused on the frequency distributions of rs1805087 (D919G/A2756G) and rs1801394 (I22M/A66G) of these genes in the West Bengal population, India for the first time. The G allele frequencies of rs1085087 and rs1801394 were 8% and 47% respectively. The G allele frequency of MTR rs1085087 in Indian population is less than the other major population; such as, in European (17%), American (18%), African (28%) and South Asian (32%) population. The G allele frequency of MTRR rs1801394 is quite like the European and south Asian population (G=52%) but greatly differs from African (25%), East Asian (26%) and mixed American (28%) population. This observation might help us to understand pattern of genetic alteration and development of single screening protocol for early detection and better prognosis in future.