Methylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia as a risk factor for coronary heart disease in the Indian population.

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dc.contributor.authorNair, K Gen_US
dc.contributor.authorNair, S Ren_US
dc.contributor.authorAshavaid, T Fen_US
dc.contributor.authorDalal, J Jen_US
dc.contributor.authorEghlim, F Fen_US
dc.date.accessioned2002-05-21en_US
dc.date.accessioned2009-05-31T05:24:20Z
dc.date.available2002-05-21en_US
dc.date.available2009-05-31T05:24:20Z
dc.date.issued2002-05-21en_US
dc.description.abstractOBJECTIVE: The screening and therapeutic guidelines for the management of lipid abnormalities are reasonably well established. However, other risk factors like hyperhomocysteinemia (HCA) and single nucleotide polymorphisms involving the angiotensin converting enzyme (ACE) and angiotensinogen genes, various clotting factors etc., have yet to be established firmly as other causative factors of atherothrombotic disease. Our study was aimed at finding the relationship between HCA, folate, vitamins B12 levels, and mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) and cystathionine beta-synthase (CBS) genes. METHODS: We studied 230 subjects, which included patients with angiographically documented coronary heart disease (CHD) (n=115) and controls (n=115) with no history of CHD. RESULTS: Elevated levels of plasma homocysteine, above 18 nmoles/ml, were detected in 19.13% and 18.26% of our patients and controls, respectively. Homocysteine was significantly correlated to Apo A1 (r=0.51, p < 0.05) and Apo B (r=0.49, p < 0.05). The heterozygous MTHFR mutation was found to be 54.5% (12/22) in our patients with HCA. Of these, 31.8% (7/22) were deficient for plasma folate. Heterozygosity for T833C mutation in the CBS gene was observed in 9.99% (2/22) of our patients with HCA. Both these patients were also deficient for plasma folate and vitamin B12. CONCLUSION: In our study, heterozygosity for the thermolabile MTHFR mutation was found to be associated with hyperhomocysteinemia (HCA). This genetic predisposition to HCA could be risk factor for CHD and can be correlated with vitamin supplementation. To the best of our knowledge this is the first report from India on plasma homocysteine levels and its genetic aspect in patients with CHD.en_US
dc.description.affiliationBreach Candy Hospital, Mumbai.en_US
dc.identifier.citationNair KG, Nair SR, Ashavaid TF, Dalal JJ, Eghlim FF. Methylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia as a risk factor for coronary heart disease in the Indian population. Journal of the Association of Physicians of India. 2002 May; 50 Suppl(): 9-15en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/95548
dc.language.isoengen_US
dc.source.urihttps://www.japi.orgen_US
dc.subject.meshAdulten_US
dc.subject.meshCoronary Disease --blooden_US
dc.subject.meshCystathionine beta-Synthase --geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFolic Acid --blooden_US
dc.subject.meshGenotypeen_US
dc.subject.meshHomocysteine --blooden_US
dc.subject.meshHumansen_US
dc.subject.meshHyperhomocysteinemia --blooden_US
dc.subject.meshMaleen_US
dc.subject.meshMethylenetetrahydrofolate Reductase (NADPH2)en_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshOxidoreductases Acting on CH-NH Group Donors --geneticsen_US
dc.subject.meshRisk Factorsen_US
dc.subject.meshVitamin B 12 --blooden_US
dc.titleMethylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia as a risk factor for coronary heart disease in the Indian population.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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