CBS 844ins68, MTR A2756G and MTHFR C677T gene polymorphisms in hyperhomocysteinemia: A study among a non-tribal population group with East Asian ancestry (India)

Hyperhomocysteinemia (Hhcy) is reported to be one of the non-traditional risk factors for cardiovascular diseases. Mutation of genes in one-carbon metabolic pathway (homocysteine metabolism pathway) like methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and cystathionine beta synthase (CBS) have been implicated in hyperhomocysteinemia. The present study is an attempt to understand the association of CBS 844ins68, MTR A2756G and MTHFR C677T gene polymorphisms with hyperhomocysteinemia among a non-tribal population of Manipur, India. A total of 200 individuals from both sexes age ranging between 35 yrs. to 65 yrs. were randomly recruited for the present study. Genotyping of MTHFR C677T, MTR A2756G and CBS 844ins68 gene polymorphisms and analysis of homocysteine levels were done using standard protocols. Of the recruited individuals, 70% were classified as hyperhomocysteinemia cases and 30% were classified as normal homocysteine controls. Results indicate that none of the selected gene polymorphisms were found to be associated with hyperhomocysteinemia in the presently studied population group. However, individuals with TT genotype of MTHFR C677T gene polymorphism are bound to have hyperhomocysteinemia. Further, this TT genotype mediated hyperhomocysteinemia could be lethal among the individuals who have NI genotype of CBS 844ins68 gene polymorphism.