Thermolabile methylenetetrahydrofolate reductase in coronary artery disease

Circulation

Volumn 96, Issue 8, 1997, Pages 2573-2577

  Kluijtmans, Leo A J ^c   Kastelein, John J P ^a   Lindemans, Jan ^c   Boers, Godfried H J ^c   Heil, Sandra G ^c   Bruschke, Albert V G ^c   Jukema, J Wouter ^c   Van Den Heuvel, Lambert P W J ^c   Trijbels, Frans J M ^c   Boerma, Geert J M ^c   Verheugt, Freek W A ^c   Willems, Frank ^c   Blom, Henk J ^b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c NONE

Author keywords

Coronary disease; Homocysteine; Meta analysis; Methylenetetrahydrofolate reductase; Risk factors

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); HOMOCYSTEINE; METHIONINE; METHYLENETETRAHYDROFOLIC ACID;

ARTICLE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; CORONARY RISK; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERHOMOCYSTEINEMIA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR;

EID: 0030826587     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.96.8.2573     Document Type: Article

References (39)

1. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: probable benefits of increasing folic acid intakes JAMA. 1995;274:1049-1057.
2. Boers GHJ, Smals AGH, Trijbels JMF, Fowler B, Bakkeren JAJM, Schoonderwaldt HC, Kleijer WJ, Kloppenborg PWC. Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. N Engl J Med. 1985;313:709-715.
3. Clarke R, Daly L, Robinson K, Naughten E, Cahalane S, Fowler B, Graham I. Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med. 1991;324:1149-1155.
4. Selhub J, Jacques PF, Wilson PWF, Rush D, Rosenberg IH. Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. JAMA. 1993;270:2693-2698.
5. Kang S-S, Zhou J, Wong PWK, Kowalisyn J, Strokosch G. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet. 1988;43:414-421.
6. Kraus JP, Le K, Swaroop M, Ohura T, Tahara T, Rosenberg LE, Roper MD, Kozich V. Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells. Hum Mol Genet. 1993;2:1633-1638.
7. Goyette P, Sumner JS, Milos R, Duncan AMV, Rosenblatt DS, Matthews RG, Rozen R. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet. 1994;7:195-200.
8. Goyette P, Frosst P, Rosenblatt DS, Rozen R. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet. 1995;56:1052-1059.
9. Goyette P, Christensen B, Rosenblatt DS, Rozen R. Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. Am J Hum Genet. 1996;59:1268-1275.
10. Kraus JP. Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis. 1994;17:383-390.
11. Kluijtmans LAJ, Blom HJ, Boers GHJ, Van Oost BA, Trijbels JMF, Van den Heuvel LPWJ. Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients. Hum Genet. 1995;96:249-250.
12. Kluijtmans LAJ, Boers GHJ, Stevens EMB, Renier WO, Kraus JP, Trijbels JMF, Van den Heuvel LPWJ, Blom HJ. Defective cystathionine β-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest. 1996;15:285-289.
13. Daly L, Robinson K, Tan KS, Graham IM. Hyperhomocysteinemia: a metabolic risk factor for coronary heart disease determined by both genetic and environmental influences? Q J Med. 1993;86: 685-689.
14. Kang S-S, Wong PWK, Susmanbo A, Sora J, Norusis M, Ruggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet. 1991;48: 536-545.
15. Kang S-S, Passen EL, Ruggie N, Wong PWK, Sora H. Thermolabile defect of methylenetetrahydrofolate reductase in coronary artery disease. Circulation. 1993;88:1463-1469.
16. Engbersen AMT, Franken DG, Boers GHJ, Stevens EMB, Trijbels JMF, Blom HJ. Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet. 1995;56:142-150.
17. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GHJ, Den Heijer M, Kluijtmans LAJ, Van den Heuvel LPWJ, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10:111-113.
18. Kluijtmans LAJ, Van den Heuvel LPWJ, Boers GHJ, Stevens EMB, Frosst P, Van Oost BA, Trijbels JMF, Rozen R, Blom HJ. 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. 1996;58:35-41.
19. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J, Rozen R. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 1996;93:7-9.
20. Van der Put NMJ, Van den Heuvel LPWJ, Steegers-Theunissen RPM, Trijbels JMF, Eskes TKAB, Mariman ECM, Den Heijer M, Blom HJ. Decreased methylenetetrahydrofolate reductase activity due to the 677 C→T mutation in families with spina bifida offspring. J Mol Med. 1996;74:691-694.
21. Ma J, Stampfer MJ, Hennekens CH, Frosst P, Selhub J, Horsford J, Malinow MR, Willett WC, Rozen R. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation. 1996;94: 2410-2416.
22. Wilcken DEL, Wang XL, Sim AS, McCredie RM. Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation. Arterioscler Thromb Vasc Biol. 1996;16:878-882.
23. Gallagher PM, Meleady R, Shields DC, Tan KS, Mcmaster D, Rozen R, Evans A, Graham IM, Whitehead AS. Homocysteine and risk of premature coronary heart disease: evidence for a common gene mutation. Circulation. 1996;94:2154-2158.
24. Schmitz C, Lindpaintner K, Verhoef P, Gaziano JM, Buring J. Genetic polymorphism of methylenetetrahydrofolate reductase and myocardial infarction: a case-control study. Circulation. 1996;94: 1812-1814.
25. Adams M, Smith PD, Martin D, Thomson JR, Lodwick D, Samani NJ. Genetic analysis of thermolabile methylenetetrahydrofolate reductase as a risk factor for myocardial infarction. Q J Med. 1996;89:437-444.
26. Izumi M, Iwai N, Ohmichi N, Nakamura Y, Shimoike H, Kinoshita M. Molecular variant of 5,10-methylenetetrahydrofolate reductase risk factor of ischemic heart disease in the Japanese population. Atherosclerosis. 1996;121:293-294.
27. Jukema JW, Bruschke AVG, Van Boven AJ, Reiber JHC, Bal ET, Zwinderman AH, Jansen H, Boerma GJM, Van Rappard FM, Lie KI, for the REGRESS Study Group. Effects of lipid lowering by pravastatin on progression and regression of coronary artery disease in symptomatic men with normal to moderately elevated serum cholesterol levels: the Regression Growth Evaluation Statin Study (REGRESS). Circulation. 1995;91:2528-2540.
28. Den Heijer M, Blom HJ, Gerrits WBJ, Rosendaal FR, Haak HL, Wijermans PW, Bos GMJ. Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancet. 1995;345:882-885.
29. Verhoef P, Kok FJ, Kluijtmans LAJ, Blom HJ, Refsum H, Ueland PM, Kruyssen DACM. The 677C→T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma total homocysteine levels and risk of coronary atherosclerotic disease. Atherosclerosis. 1997;132:105-113.
30. Ubbink JB, Vermaak WJH, Bissbort S. Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum. J Chromatogr. 1991;565:441-446.
31. Morris JA, Gardner MJ. Calculating confidence intervals for relative risks, odds ratios, and standardised ratios and rates. In: Gardner MJ, Altman DG, eds. Statistics With Confidence: Confidence Intervals and Statistical Guidelines. London, UK: British Medical Journal; 1989; 50-63.
32. Kang S-S, Wong PWK, Cook HY, Norusis M, Messer JV. Protein-bound homocyst(e)ine: a possible risk factor for coronary artery disease. J Clin Invest. 1986;77:1482-1486.
33. Arnesen E, Refsum H, Bonaa KH, Ueland PM, Forde OH, Nordrehaug JE. Serum total homocysteine and coronary heart disease. Int J Epidemiol. 1995;24:704-709.
34. Nygård O, Vollset SE, Refsum H, Stensvold I, Tverdal A, Nordrehaug JE, Ueland PM, Kvåle G. Total plasma homocysteine and cardiovascular risk profile: the Hordaland Homocysteine Study. JAMA. 1995;274:1526-1533.
35. Selhub J, Jacques PF, Bostom A, D'Agostino RB, Wilson PWF, Belanger AJ, O'Leary DH, Wolf PA, Schaefer EJ, Rosenberg IH. Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis. N Engl J Med. 1995;332: 286-291.
36. Van den Berg M, Stehouwer CDA, Bierdrager E, Rauwerda JA. Plasma homocysteine and severity of atherosclerosis in young patients with lower-limb atherosclerotic disease. Arterioscler Thromb Vasc Biol. 1996;16:165-171.
37. Van der Put NMJ, Steegers-Theunissen RPM, Frosst P, Trijbels JMF, Eskes TKAB, Van den Heuvel LPWJ, Mariman ECM, Den Heijer M, Rozen R, Blom HJ. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet. 1995;346: 1070-1071.
38. Harmon DL, Woodside JV, Yarnell JWG, McMaster D, Young IS, McCrum EE, Gey KF, Whitehead AS, Evans AE. The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia. Q J Med. 1996; 89:571-577.
39. Kang S-S, Wong PWK, Zhou J, Sora J, Lessick M, Ruggie N, Grcevich G. Thermolabile methylenetetrahydrofolate reductase in patients with coronary artery disease. Metabolism. 1988;37:611-613.