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Methylenetetrahydrofolate reductase (MTHFR) and Cytosolic serine hydroxymethyltransferase (cSHMT) are enzymes involve in folate regulation in human. The C to T transition of the cSHMT and MTHFR genes at the 1420 as well as 677 nucleotides both carries TT genotype respectively. These enzymes have direct and indirect relations with the production of homocysteine. TT genotypes of both genes give rise to high level of homocysteine which in turn is linked to cardiovascular diseases susceptibility. This study evaluates MTHFR 677C-T and cSHMT 1420C-T polymorphisms and the distribution of their genotypes in a Malaysian study population emphasizing on the gender and major ethnics. Three hundred and ten (310) healthy subjects were recruited and genotyping of the variants were performed using PCR-restriction fragement length polymorphism (RFLP) method. Our results showed that for MTHFR gene, the frequency of TT genotype on the whole study population was 0.17±0.374. Females (21.08%) were identified to carry higher frequency of TT genotype while the Chinese (28.83%) had the highest frequency of TT genotype compared to Malay and Indian (p < 0.05). The frequency of TT genotype of cSHMT gene on the other hand was 0.24±0.425. Females (16.32%) and the Chinese displayed highest frequency of cSHMT TT genotype (p < 0.05). Our preliminary results showed that female and the Chinese display higher prevalence of TT genotype of both MTHFR and cSHMT genes in Malaysia.
Keywords: methylenetetrahydrofolate reductase (MTHFR), cytosolic serine hydroxymethyltransferase (cSHMT), polymorphisms, PCR-RFLP, Malaysian population