A common mutation in the methylenetetrahydrofolate reductase gene and risk of coronary heart disease: Results among U.S. men

Journal of the American College of Cardiology

Volumn 32, Issue 2, 1998, Pages 353-359

  Verhoef, Petra ^a,c   Rimm, Eric B ^a,b   Hunter, David J ^a,b   Chen, Jia ^a,b   Willett, Walter C ^a,b   Kelsey, Karl ^a   Stampfer, Meir J ^a,b  

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c WAGENINGEN UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE; PYRIDOXINE; RIBOFLAVIN;

ADULT; AGED; ALCOHOLISM; ARTICLE; CORONARY RISK; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; HYPERHOMOCYSTEINEMIA; HYPERTENSION; INCIDENCE; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SEX DIFFERENCE; UNITED STATES; VITAMIN INTAKE;

ADULT; AGED; ALLELES; CASE-CONTROL STUDIES; CONFIDENCE INTERVALS; CORONARY DISEASE; DIET; FOLIC ACID; FOLLOW-UP STUDIES; GENOTYPE; HETEROZYGOTE; HOMOCYSTEINE; HOMOZYGOTE; HUMANS; MALE; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; MUTATION; ODDS RATIO; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PYRIDOXINE; RIBOFLAVIN; RISK FACTORS; SMOKING; UNITED STATES; VITAMIN B 12;

EID: 0032146855     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0735-1097(98)00244-7     Document Type: Article

References (42)

1. Selhub J., Miller J.W. The pathogenesis of homocysteinemia interruption of the coordinate regulation by S-adenosylmethionine of the remethylation and transsulfuration of homocysteine . Am J Clin Nutr. 55:1992;131-138.
2. Boushey C.J., Beresford S.A.A., Omenn G.S., Motulsky A.G. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA. 274:1995;1049-1057.
3. Stampfer M.J., Malinow M.R., Willett W.C., et al. A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians. JAMA. 268:1992;877-881.
4. Rozen R. Molecular genetic aspects of hyperhomocysteinemia and its relation to folic acid. Clin Invest Med. 19:1996;171-178.
5. Ueland P.M., Refsum H., Brattström L. Plasma homocysteine and cardiovascular disease. Francis R.B. Jr. Atherosclerotic Cardiovascular Disease, Hemostasis, and Endothelial Function. 1992;183-236 Marcel Dekker, New York.
6. Kang S.S., Wong P.W.K., Zhou J., et al. Thermolabile methylenetetrahydrofolate reductase in patients with coronary artery disease. Metabolism. 37:1988;611-613.
7. Kang S.S., Zhou J., Wong P.W.K., Kowalisyn J., Strokosch G. Intermediate homocysteinemia a thermolabile variant of methylenetetrahydrofolate reductase . Am J Hum Genet. 43:1988;414-421.
8. Engbersen A.M.T., Franken D.G., Boers G.H.J., Stevens E.M.B., Trijbels F.J.M., Blom H.J. Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet. 56:1995;142-150.
9. Kang S.S., Wong P.W.K., Susmano A., Sora J., Norusis M., Ruggie N. Thermolabile methylenetetrahydrofolate reductase an inherited risk factor for coronary artery disease . Am J Hum Genet. 48:1991;536-545.
10. Kang S.S., Passen E.L., Ruggie N., Wong P.W., Sora H. Thermolabile defect of methylenetetrahydrofolate reductase in coronary artery disease. Circulation. 88:1993;1463-1469.
11. Frosst P., Blom H.J., Milos R., et al. A candidate genetic risk factor for vascular disease a common mutation in methylenetetrahydrofolate reductase . Nat Genet. 10:1995;111-113.
12. Harmon D.L., Woodside J.V., Yarnell J.W.G., et al. The common 'thermolabile' variant of methylenetetrahydrofolate reductase is a major determinant of mild hyperhomocysteinemia. Q J Med. 89:1996;571-577.
13. Ma J., Stampfer M.J., Hennekens C.H., et al. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation. 94:1996;2410-2416.
14. Kluijtmans L.A.J., Van den Heuvel L.P.W.J., Boers G.H.J., et al. Molecular genetic analysis in mild hyperhomocysteinemia a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease . Am J Hum Genet. 58:1996;35-41.
15. Jacques P.F., Bostom A.G., Williams R.R., et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 93:1996;7-9.
16. Adams M., Smith P.D., Martin D., Thompson J.R., Lodwick D., Samani N.J. Genetic analysis of thermolabile methylenetetrahydrofolate reductase as a risk factor for myocardial infarction. Q J Med. 89:1996;437-444.
17. Gallagher P.M., Meleady R., Shields D.C., et al. Homocysteine and risk of premature coronary heart disease. Evidence for a common gene mutation. Circulation. 94:1996;2154-2158.
18. Izumi M., Iwai N., Ohmichi N., Nakamura Y., Shimoike H., Kinoshita M. Molecular variant of 5,10-methylenetetrahydrofolate reductase is a risk factor of ischemic disease in the Japanese population. Atherosclerosis. 121:1996;293-294.
19. Narang R., Callaghan G., Haider A.W., Davies G.J., Tuddenham E.G.D. Methylenetetrahydrofolate reductase and coronary artery disease. Circulation. 94:1996;2322-2323.
20. Schmitz C., Lindpaintner K., Verhoef P., Gaziano J.M., Buring J. Genetic polymorphism of methylenetetrahydrofolate reductase and myocardial infarction a case-control study . Circulation. 94:1996;1812-1814.
21. Verhoef P, Kok FJ, Kluijtmans LAJ, Blom HJ, Refsum H, Ueland PM, et al. The 677C→T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma total homocysteine levels and risk of coronary atherosclerotic disease. Atherosclerosis 1997;132:105-3.
22. Wilcken D.E.L., Wang X.L., Sim A.S., McCredie R.M. Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C667T mutation. Arterioscler Thromb Vasc Biol. 16:1996;877-882.
23. Brulhart M.-C., Dussoix P., Ruiz J., Passa P., Froguel Ph, James R.W. The (Ala-Val) mutation of methylenetetrahydrofolate reductase as a genetic risk factor for vascular disease in non-insulin-dependent diabetic patients. Am J Hum Genet. 60:1997;228-229.
24. De Franchis R., Mancini F.P., D'Angelo A., et al. Elevated total plasma homocysteine and 677C→T mutation in 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease. Am J Hum Genet. 59:1996;262-264.
25. Deloughery T.G., Evans A., Sadehgi A., et al. Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine metabolism and late-onset vascular disease. Circulation. 94:1996;3074-3078.
26. Van Bockxmeer F.M., Mamotte C.D., Vasikaran S.D., Taylor R.R. Methylenetetrahydrofolate reductase gene and coronary artery disease. Circulation. 95:1997;21-23.
27. Brugada R., Marian A.J. A common mutation in methylenetetrahydrofolate reductase gene is not a major risk of coronary artery disease or mycocardial infarction. Atherosclerosis. 128:1997;107-112.
28. Cristensen B., Frosst P., Lussier-Cacan S., et al. Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease. Arterioscler Thromb Vasc Biol. 17:1997;569-573.
29. Morita H., Taguchi J., Kurihara H., et al. Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease. Circulation. 95:1997;2032-2036.
30. Anderson J.L., King G.J., Thomson M.J., et al. A mutation in methylenetetrahydrofolate reductase is not associated with increased risk for coronary artery disease or myocardial infarction. J Am Coll Cardiol. 30:1997;1206-1211.
31. Kluijtmans L.A.J., Kastelein J.J.P., Lindemans J., et al. Thermolabile methylenetetrahydrofolate reductase in coronary artery disease. Circulation. 96:1997;2573-2577.
32. Rimm E.B., Stampfer M.J., Ascherio A., Giovannucci E., Colditz G.A., Willett W.C. Vitamin E consumption and the risk of coronary heart disease in men. N Engl J Med. 328:1993;1450-1456.
33. Rose GA, Blackburn H. Cardiovascular survey methods. In: World Health Organization Monograph Series No. 58. Geneva, Switzerland: World Health Organization, 1982.
34. Rimm E.B., Giovannucci E.L., Stampfer M.J., Colditz G.A., Litin L.B., Willett W.C. Reproducibility and validity of an expanded self-administered semiquantitative food frequency questionnaire among male health professionals. Am J Epidemiol. 135:1992;1114-1126.
35. US Department of Agriculture: Agricultural Handbook No. 8 series. Composition of Foods: Raw, Processed and Prepared. Washington, DC: US Govt Print Off: 1963-1988.
36. Willett W.C., Stampfer M.J. Total energy intake implications for epidemiologic analyses . Am J Epidemiol. 124:1986;17-27.
37. Giovannucci E., Stampfer M.J., Colditz G.A., et al. Folate, methionine and alcohol intake and risk of colorectal adenoma. J Natl Cancer Inst. 85:1993;875-884.
38. Jacques P.F., Sulsky S.I., Sadowski J.A., Phillips J.C.C., Rush D., Willett W.C. Comparison of micronutrient intake measured by a dietary questionnaire and biochemical indicators of micronutrient status. Am J Clin Nutr. 57:1993;182-189.
39. Willett W.C. Nutritional Epidemiology. 1990;92-126 Oxford University Press, New York.
40. Chen J., Giovannucci E., Kelsey K., et al. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res. 56:1996;4862-4864.
41. Van der Put N.M.J., Steegers-Theunissen R.P.M., Frosst P., et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet. 346:1995;1070-1071.
42. Rees M.M., Rodgers G.M. Homocysteinemia association of a metabolic disorder with vascular disease and thrombosis . Thromb Res. 71:1993;337-359.