Relationship between total plasma homocysteine, polymorphisms of homocysteine metabolism related enzymes, risk factors and coronary artery disease in the Australian hospital-based population

Atherosclerosis

Volumn 146, Issue 1, 1999, Pages 133-140

  Wang, Xing L ^a,c   Duarte, Natalia ^a   Cai, Hua ^a   Adachi, Tetsuo ^b   Sim, Ah Siew ^a   Cranney, Greg ^a   Wilcken, David E L ^a  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b GIFU PHARMACEUTICAL UNIVERSITY   (Japan)

^c PRINCE OF WALES HOSPITAL   (Australia)

Author keywords

Coronary artery disease; Cystathionine beta synthase; Extracellular superoxide dismutase; Methionine synthase; Methyltetrahydrofolate transferase; Total plasma homocysteine

Indexed keywords

5 METHYLTETRAHYDROFOLATE HOMOCYSTEINE METHYLTRANSFERASE; CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; METHIONINE SYNTHASE; S ADENOSYLHOMOCYSTEINE; SUPEROXIDE DISMUTASE;

ADULT; AMINO ACID METABOLISM; ANGINA PECTORIS; ARTICLE; AUSTRALIA; CONTROLLED STUDY; CORONARY ARTERY DISEASE; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; OXIDATIVE STRESS; PRIORITY JOURNAL; RISK FACTOR;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ADULT; AGE DISTRIBUTION; AGED; ANALYSIS OF VARIANCE; AUSTRALIA; CORONARY DISEASE; CYSTATHIONINE BETA-SYNTHASE; FEMALE; HOMOCYSTEINE; HOSPITALS; HUMANS; INCIDENCE; LOGISTIC MODELS; MALE; MIDDLE AGED; OXIDATIVE STRESS; POLYMORPHISM, GENETIC; POPULATION SURVEILLANCE; RISK FACTORS; SEVERITY OF ILLNESS INDEX; SEX DISTRIBUTION;

EID: 0032773207     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(99)00111-2     Document Type: Article

References (48)

1. Wilcken DEL, Wilcken B. The pathogenesis of coronary artery disease: a possible role for methionine metabolism. J Clin Invest 1976;57:1079-82.
2. Dudman NPB, Wilcken DEL, Wang J, Lynch JF, Macey D, Lundberg P. Disordered methionine/homocysteine metabolism in premature vascular disease: its occurrence, cofactor therapy and enzymology. Arterioscler Thromb 1993;13:1253-60.
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;324:1149-55.
4. Selhub J, Jacques PF, Bostom AG, 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;332:286-91.
5. Boers GHJ, Smals AHG, Trijbels FJM, Trijbels FTM, Bakkeren TATM, Schoonderwaldt HC, Fowler B, Kleijer WT. Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. New Engl J Med 1985;313:709-15.
6. Graham IM, Daly LE, Refsum HM, Robinson K, Brattstrom LE, Ueland PM, Palma-Reis RJ, Boers GH, Sheahan RG, Israelsson B, Uiterwaal CS, Meleady R, McMaster D, Verhoef P, Witteman J, Rubba P, Bellet H, Wautrecht JC, de Valk HW, Sales Luis AC, Parrot-Rouland FM, Tan KS, Higgins I, Garcon D, Andria G, et al. Plasma homocysteine as a risk factor for vascular disease. The European concerted action project. JAMA 1997;277:1775-81.
7. Nygard O, Nordrehaug JE, Refsum H, Ueland PM, Farstad M, Vollset SE. Plasma homocysteine levels and mortality in patients with coronary artery disease. New Engl J Med 1997;337:230-6.
8. den Heiher M, Blom HJ, Gerrits WB, Rosendaal FR, Haak HL, Wijermans PW. Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancet 1995;345:882-5.
9. Wilcken DEL, Gupta VJ. Sulphur containing amino acids in chronic renal failure with particular reference to homocystine and cysteine-homocysteine mixed disulphide. Europ J Clin Invest 1979;9:301-7.
10. Wilcken DEL, Gupta VJ, Betts AK. Homocysteine in the plasma of renal transplant recipients: effects of cofactors for methionine metabolism. Clin Sci 1981;61:743-9.
11. Wilcken DEL, Dudman NPB, Tyrrell PA, Robertson MR. Folic acid lowers elevated plasma homocyst(e)ine in chronic renal insufficiency: possible implications for prevention of vascular disease. Metabolism 1988;37:697-701.
12. Robinson K, Gupta A, Dennis V, Arheart K, Chaudhary D, Green R, Vigo P, Mayer EL, Selhub J, Kutner M, Jacobsen DW. Hyperhomocysteinemia confers an independent increased risk of atherosclerosis in end-stage renal disease and is closely linked to plasma folate and pyridoxine concentrations. Circulation 1996;94:2743-8.
13. Wilcken DEL, Dudman NPB. Mechanisms of thrombogenesis and accelerated atherogenesis in homocysteinaemia. Haemostasis 1989;19:14-23 (supp. 1).
14. Clarke R, Naughten E, Cahalane S, Sullivan KO, Mathias P, McCall T, Graham I. The role of free radicals as mediators of endothelial cell injury in hyperhomocysteinemia. Ir J Med Sci 1992;161:561-4.
15. Qutinen PA, Sood SK, Liaw PC, Sarge KD, Maeda N, Hirsh J, Ribau J, Podor TJ, Weitz JI, Austin RC. Characterization of the stress-inducing effects of homocysteine. Biochem J 1998;332:213-21.
16. Tsai J-C, Perrella MA, Yoshizumi M, Hsich CM, Haber E, Schlegel R, Lee ME. Promotion of vascular smooth muscle cell growth by homocysteine: a link to atherosclerosis. Proc Natl Acad Sci USA 1994;91:6369-73.
17. Dalton ML, Gadson Jr PF, Wrenn RW, Rosenquist TH. Homocysteine signal cascade: production of phospholipids, activation of protein kinase C, and the induction of c-fos and c-myb in smooth muscle cells. FASEB J 1997;11:703-11.
18. Mudd SH, Levy HL, Skovby F. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic Basis of Inherited Disease, 6th Edn. New York: McGraw-Hill, 1995: 1279-1326.
19. Jakubowski H. Metabolism of homocysteine thiolactone in human cell cultures. J Biol Chem 1997;272:1935-42.
20. Avramopoulos D, Cox T, Kraus JP, Chakravarti A, Antonarakis SE. Linkage mapping of the cystathionine β-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region. Hum Genet 1993;90:566-8.
21. Chen LH, Liu M-L, Hwang H-H, Chen L-S, Korenberg J, Shane B. Human methionine synthase. cDNA cloning, gene localization, and expression. J Biol Chem 1997;272:3628-34.
22. Fowler B. Disorders of homocysteine metabolism. J Inher Metab Dis 1997;20:270-85.
23. Goyette P, Sumner JS, Milos R, Duncan AMV, Rosenblatt DS, Mathews RG, Rozen R. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet 1994;7:195-200.
24. Kozich V, Kraus JP. Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine β-synthase deficiency. Hum Mut 1992;1(2):113-23.
25. Goyette P, Forsst 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;56:1052-9.
26. Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet 1993;2(11):1857-60.
27. Kraus JP. Molecular basis of phenotype expression in homocystinuria. J Inher Metab Dis 1994;17:383-90.
28. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, van den Heuvel LP, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3.
29. Kang SS, Passen EL, Ruggie N, Wong PW, Sora H. Thermolabile defect of methylenetetrahydrofolate reductase in coronary artery disease. Circulation 1993;88:1463-9.
30. Deloughery TG, Evans A, Sadeghi A, McWilliams J, Henner WD, Taylor Jr LM, Press RD. Common mutation in methylenentetrahydrofolate reductase. correlation with homocysteine metabolism and late-onset vascular disease. Circulation 1996;94:3074-8.
31. Brattström L, Wilcken DEL, Öhrvik J, Brudin L. Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease - the results of a meta analysis. Circulation 1998;98:2520-6.
32. 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;94:2410-6.
33. Wilcken DEL, Wang XL, Sim AS, McCredie RM. Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation. Arterioscler Thromb Vase Biol 1996;16:878-82.
34. Verhoef P, Rimm EB, Hunter DJ, Chen J, Willett WC, Kelsey K, Stampfer MJ. A common mutation in the methylenetetrahydrofolate reductase gene and risk of coronary heart disease: results among US men. J Am Coll Cardiol 1998;32:353-9.
35. Wilcken DEL, Wang XL, Wilcken B. Methylenetetrahydrofolate reductase (MTHFR) mutation, homocyst(e)ine and coronary disease. Circulation 1997;96:2738-9.
36. Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ. High prevalence of a mutation in the cystathionine β-synthase gene. Am J Hum Genet 1996;59:1262-7.
37. Leclerc D, Campeau E, Goyette P, Adjalla CE, Christensen B, Ross M, Eydoux P, Rosenblatt DS, Rozen R, Gravel RA. Human methionine synthase: cDNA cloning and identification of mutations in patients of cbIG complementation group of folate/cobalamin disorders. Hum Mol Genet 1996;5:1867-74.
38. Gulati S, Baker P, Li YN, Fowler B, Kruger W, Brody LC, Banerjee R. Defects in human methionine synthase in cbiG patients. Hum Mol Genet 1996;5:1859-65.
39. Wang XL, Tam C, McCredie RM, Wilcken DEL. Determinants of severity of coronary artery disease in Australian men and women. Circulation 1994;89:1974-81.
40. Adachi T, Ohta H, Yamada H, Futenma A, Kato K, Hirano K. Quantitative analysis of extracellular-superoxide dismutase in serum and urine by ELISA with monoclonal antibody. Clin Chim Acta 1992;212:89-102.
41. Wang XL, Adachi T, Sim AS, Wilcken DEL. Plasma extracellular superoxide dismutase levels in an Australian population with coronary artery disease. Arterioscler Thromb Vase Biol 1998;18:1915-21.
42. Stralin P, Karlsson K, Johansson BO, Marklund SL. The interstitium of the human arterial wall contains very large amounts of extracellular superoxide dismutase. Arterioscler Thromb Vasc Biol 1995;15:2031-6.
43. Karlsson K, Marklund SL. Extracellular superoxide dismutase in the vascular system of mammals. Biochem J 1988;255:223-8.
44. Sandstrom J, Karlsson K, Edlund T, Marklund SL. Heparin-affinity patterns and composition of extracellular-superoxide dismutase in human plasma and tissues. Biochem J 1993;294:847-53.
45. Karlsson K, Sandstrom J, Edlund A, Edlund T, Marklund SL. Pharmacokinetics of extracellular-superoxide dismutase in the vascular system. Free Radic Biol Med 1993;14:185-90.
46. Folsom AR, Nieto FJ, McGovern PG, Tsai MY, Malinow MR, Eckfeldt JH, Hess DL, Davis CE. Prospective study of coronary heart disease incidence in relation to fasting total homocysteine, related genetic polymorphisms, and B vitamins. The atherosclerosis risk in communities (ARIC) study. Circulation 1998;98:204-10.
47. Kuller LH, Evans RW. Homocysteine, vitamins, and cardiovascular disease. Circulation 1998;98:196-9.
48. Wang XL, Cai H, Cranney GB, Wilcken DEL. The frequency of a common mutation of the methionine synthase gene in the Australian population and its relation to coronary artery disease. J Cardiovascular Risk 1998;5:289-95.