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Methylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia as a risk factor for coronary heart disease in the Indian population.
J Assoc Physicians India. 2002 May; 50 Suppl:9-15.JA

Abstract

OBJECTIVE

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.

Authors+Show Affiliations

Breach Candy Hospital, Mumbai.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12186157

Citation

Nair, K G., et al. "Methylenetetrahydrofolate Reductase Gene Mutation and Hyperhomocysteinemia as a Risk Factor for Coronary Heart Disease in the Indian Population." The Journal of the Association of Physicians of India, vol. 50 Suppl, 2002, pp. 9-15.
Nair KG, Nair SR, Ashavaid TF, et al. Methylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia as a risk factor for coronary heart disease in the Indian population. J Assoc Physicians India. 2002;50 Suppl:9-15.
Nair, K. G., Nair, S. R., Ashavaid, T. F., Dalal, J. J., & Eghlim, F. F. (2002). Methylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia as a risk factor for coronary heart disease in the Indian population. The Journal of the Association of Physicians of India, 50 Suppl, 9-15.
Nair KG, et al. Methylenetetrahydrofolate Reductase Gene Mutation and Hyperhomocysteinemia as a Risk Factor for Coronary Heart Disease in the Indian Population. J Assoc Physicians India. 2002;50 Suppl:9-15. PubMed PMID: 12186157.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Methylenetetrahydrofolate reductase gene mutation and hyperhomocysteinemia as a risk factor for coronary heart disease in the Indian population. AU - Nair,K G, AU - Nair,S R, AU - Ashavaid,T F, AU - Dalal,J J, AU - Eghlim,F F, PY - 2002/8/21/pubmed PY - 2002/10/31/medline PY - 2002/8/21/entrez SP - 9 EP - 15 JF - The Journal of the Association of Physicians of India JO - J Assoc Physicians India VL - 50 Suppl N2 - OBJECTIVE: 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. SN - 0004-5772 UR - https://www.unboundmedicine.com/medline/citation/12186157/Methylenetetrahydrofolate_reductase_gene_mutation_and_hyperhomocysteinemia_as_a_risk_factor_for_coronary_heart_disease_in_the_Indian_population_ L2 - http://www.diseaseinfosearch.org/result/130 DB - PRIME DP - Unbound Medicine ER -