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Vascular. 2012 Apr;20(2):88-95. doi: 10.1258/vasc.2011.oa0320. Epub 2012 Feb 28.

Higher incidence of C677T polymorphism of the MTHFR gene in North Indian patients with vascular disease.

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Department of Biochemistry, Sir Ganga Ram Hospital, New Delhi, India.


Homocysteine is a sulfur-containing amino acid, which is derived from dietary methionine. Hyperhomocysteinemia has been implicated in vascular disease for over a decade now, and can be treated with B vitamins. Among its causes is polymorphism of the MTHFR gene, the most common being the cytidine to thymidine at position 677 (MTHFR C677T), which gives rise to three genotypes - normal homozygous CC, heterozygous CT and homozygous variant TT. An attempt was made to ascertain the prevalence of this MTHFR C677T in our population so that preventive measures may accordingly be instituted. Blood samples from 70 patients with vascular disease and 70 healthy controls were analyzed for plasma homocysteine levels (chemiluminescent immunoassay) and for the presence of MTHFR C677T (polymerase chain reaction analysis). Homocysteine was higher in the homozygous subjects (TT genotype) than in the heterozygous (CT genotype). In patients, the frequency of the C allele was significantly lower, and that of the T allele was significantly higher than the corresponding frequencies in controls. In conclusion, the North Indian urban population has higher homocysteine levels associated with the TT genotype. Hence, instituting measures towards reduction of homocysteine levels in the population would probably reduce the incidence and morbidity of vascular disease in our population.

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