Homocysteine and risk of premature coronary heart disease: Evidence for a common gene mutation

Circulation

Volumn 94, Issue 9, 1996, Pages 2154-2158

  Gallagher, Paula M ^a   Meleady, Raymond ^b   Shields, Denis C ^a   Tan, Kok Soon ^d   McMaster, Dorothy ^e   Rozen, Rima ^f   Evans, Alun ^e   Graham, Ian M ^b,c   Whitehead, Alexander S ^a  

^a TRINITY COLLEGE DUBLIN   (Ireland)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

^c ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

^d CHANGI GENERAL HOSPITAL   (Singapore)

^e QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^f MCGILL UNIVERSITY   (Canada)

Author keywords

coronary heart disease; homocysteine; MTHFR; mutation

Indexed keywords

ADULT; ALLELE; AMINO ACID BLOOD LEVEL; ARTICLE; CONTROLLED STUDY; CORONARY RISK; FEMALE; GENE MUTATION; HOMOCYSTINURIA; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK ASSESSMENT;

EID: 0029827313     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.94.9.2154     Document Type: Article

References (35)

1. 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.
2. 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.
3. Genest JJ, McNamara JR, Salem DN, Wilson PWF, Schaefer EJ, Malinow MR. Plasma homocyst(e)ine levels in men with premature coronary artery disease. J Am Coll Cardiol. 1990;16:1114-1119.
4. Williams RR, Malinow MR, Hunt SC, Upson SC, Wu LL, Hopkins PN, Stults BN, Kuida H. Hyperhomocyst(e)inemia in Utah siblings with early coronary disease. Coron Artery Dis. 1990;1:681-685.
5. Ubbink JB, Vermaak WJH, Bennett JM, Becker PJ, van Staden DA, Bissbort S. The prevalence of homocysteinemia and hypercholesterolemia in angiographically defined coronary heart disease. Klin Wochenschr. 1991;69:527-534.
6. Murphy-Chutorian D, Alderman EL. The case that hyperhomocysteinemia is a risk factor for coronary artery disease. Am J Cardiol. 1994:73:705-707.
7. Wu LL, Wu J, Hunt SC, James BC, Vincent GM, Williams R, Hopkins PN. Plasma homocyst(e)ine as a risk factor for early familial coronary artery disease. Clin Chem. 1994;40:550-561.
8. Stampfer MJ, Malinow MR, Willett WC, Newcomer LM, Upson B, Ullman D, Tishler PV, Hennekens CH. A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians. JAMA. 1992;268:877-881.
9. Arnesen E, Refsum H, Bønaa K, Ueland PM, Førde OH, Nordrehaug JE. Serum total homocysteine and coronary heart disease. Int J Epidemiol. 1995;24:704-709.
10. Mudd SH, Levy HL, Skovby F. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D. eds. The Metabolic Basis of Inherited Diseases. New York, NY: McGraw-Hill Publishing Co; 1989:693-734.
11. Mudd SH, Finkelstein JD, Irreverre F, Laster L, Homocystinuria: an enzymatic defect. Science. 1964;143:1443-1445.
12. Rosenblatt DS. Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Diseases, New York. NY: McGraw-Hill Publishing Co; 1989:2049-2064.
13. McCully KS. Vascular pathology of homocystenemia: implications for the pathogenesis of atherosclerosis. Am J Pathol. 1969;56:111-128.
14. 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.
15. Ueland PM, Refsum HR, Brattström L. Plasma homocysteine and cardiovascular disease. In: Francis RB Jr, ed. Atherosclerotic Cardiovascular Disease, Hemostasis, and Endothelial Function. New York, NY: Marcel Dekker Inc; 1992.
16. Graham IM. Homocysteinaemia and vascular disease. In: Vuylsteek K, Hallen M, eds. Epidemiology. Brussels, Belgium: IOS Press; 1994.17.
17. Kang S-S, Wong PWK, Susmano 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.
18. 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.
19. Frosst P, Blom HJ, Milos R, Sheppard CA, Matthews RG, Boers GHJ, den Heijer M, Kluijtmans LAJ, van den Heuvel LP, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10: 111-113.
20. Engbersen AMT, Franken DG, Boers GHJ, Stevens EBM, Trijbels FJM, Blom HJ. Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet. 1995;56:142-150.
21. 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.
22. Gallagher PM, Ward P, Tan S, Naughten E, Kraus J, Sellar GC, Mc Connell DJ, Graham I, Whitehead AS. High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients. Hum Mutat. 1995;6:177-180.
23. Landgren F, Israelsson B, Lindgren A, Hultberg B, Andersson A, Brattström L. Plasma homocysteine in acute myocardial infarction: homocysteine-lowering effect of folic acid. J Int Med. 1995;237: 381-388.
24. Boers G, Smals AGH, Trijbels FJM, 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.
25. Refsum H, Ueland PM, Svardal AM. Fully automated fluorescence assay for determining total homocysteine in plasma. Clin Chem. 1989;35:1921-1927.
26. Daly L, Meleady R, Graham I, for the EC Concerted Action Project. Homocysteinaemia and vascular disease: fasting or post-methionine load homocysteine: which should be measured in relation to vascular risk? Ir J Med Sci. 1995;164(suppl 15):20. Abstract.
27. Motulsky AG. Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. Am J Hum Genet. 1996;58:17-20.
28. Mudd SH, Havlik R, Levy HL, McKusick VA, Feinleib M. A study of cardiovascular risk in heterozygotes for homocystinuria. Am J Hum Genet. 1981;33:883-893.
29. Wilcken DEL. Cystathionine β-synthase deficiency: clinical outcomes. In: Rosenberg IH, Graham I, Ueland P, Refsum H, eds. International Conference on Homocysteine Metabolism: From Basic Science to Clinical Medicine. Norwell, Mass: Kluwer Academic Publishers. In press.
30. de Valk HW, van der Griend R, van Eeden MG, de Groot E, Duran M, Smeitink JM, de Klerk JC, Wittebol-Post D, Rolland MO, Haas FM, Meuwissen OT, Banga JD, Poll-The BT. Absence of premature atherosclerosis in adults with heterozygosity for cystathionine β-synthase deficiency. Ir J Med Sci. 1995;164(suppl 15):17. Abstract.
31. Pancharuniti N, Lewis CA, Sauberlich HE, Perkins LL, Go RCP, Alvarez JO, Macaluso M, Acton RT, Copeland RB, Cousins AL, Gore TB, Cornwell PE, Roseman JM. Plasma homocyst(e)ine, folate, and vitamin B12 concentrations and risk for early-onset coronary artery disease. Am J Clin Nutr. 1994;59:940-948.
32. Mudd SH. Cystathionine β-synthase deficiency: metabolic aspects. In: Rosenberg IH, Graham I, Ueland P, Refsum H, eds. International Conference on Homocysteine Metabolism: From Basic Science to Clinical Medicine. Norwell, Mass: Kluwer Academic Publishers. In press.
33. Kang SS, Zhou J, Wong PWK, Kowalisyn J, Strokosch G. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet. 1988;43:414-421.
34. Stampfer MJ, Malinow MR. Can lowering homocysteine levels reduce cardiovascular risk? N Engl J Med. 1995;332:328-329.
35. 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.