Mutation C677T of methylenetetrahydrofolate reductase gene is not associated with coronary artery disease, but possibly with albuminuria, in type 2 diabetic patients

Clinical Chemistry and Laboratory Medicine

Volumn 36, Issue 8, 1998, Pages 625-628

  Wirta, Valtteri ^b   Huang, Xiao Hong ^b   Wirta, Ole ^b   Rantalaiho, Vappu ^b   Pasternack, Amos ^b   Jokela, Hannu ^b   Koivula, Timo ^b   Lehtimäki, Terho ^a  

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

^b NONE

Author keywords

Albuminuria; Coronary artery disease; Methylenetetrahydrofolate reductase; Type 2 diabetes

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALANINE; ALBUMIN; VALINE;

ADULT; CONFERENCE PAPER; CONTROLLED STUDY; CORONARY ARTERY DISEASE; DISEASE ASSOCIATION; GENE MUTATION; GENOTYPE; HUMAN; HYPERHOMOCYSTEINEMIA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEPHELOMETRY; NON INSULIN DEPENDENT DIABETES MELLITUS; NORMAL HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEINURIA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; URINARY EXCRETION;

ADULT; AGED; ALBUMINURIA; CORONARY DISEASE; DIABETES MELLITUS, TYPE 2; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS;

EID: 0031667998     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.1998.109     Document Type: Conference Paper

References (28)

1. Mudd SH, Dkovby F. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. McGraw-Hill, 1995:1279-327.
2. Boushey CJ, Beresford SSA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: probable benefits of increasing folic acid intakes. J Am Med Assoc 1995; 274:1049-57.
3. Wilcken DEL, Wilcken B. The pathogenesis of coronary artery disease: a possible role for methionine metabolism. J Clin Invest 1976; 57:1079-82.
4. Loehrer FM, Angst CP, Haefeli WE, Jordan PP, Ritz R, Fowler B. Low whole blood S-adenosylmethionine and correlation between 5-methyltetrahydrofolate and homocysteine in coronary artery disease. Arterioscler Thromb Vasc Biol 1996; 16:727-33.
5. Donner MG, Schwandt P, Richter WO. Homocysteine and coronary haert disease. Is slight or moderate homocysteinemia related to increased risk of coronary heart disease? Fortschr Med 1997; 115:24-30.
6. Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, et al. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification (published erratum appears in Nat Genet 1994; 4: 551). Nat Genet 1994; 7:195-200.
7. Kang SS, Wong PWK, Zhou J, Sora J, Lessick M, Riggie N, et al. Thermolabile methylenetetrahydrofolate reductase in patients with coronary artery disease. Metabolism 1988; 37:611-3.
8. Kang SS, Zhou J, Wong PWK, Kowalisyn J, Strokosch G. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet 1988; 43:414-21.
9. Engbersen AM, Franken DG, Boers GH, Stevens EM, Trijbels FJ, Blom HJ. Thermolabile 5′,10′-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 1995; 56:142-50.
10. Kluijtmans LA, van den Heuvel LP, Boers GH, Frosst P, Stevens EM, van Oost BA, 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 1996; 58:35-41. Comment in: Am J Hum Genet 1996; 58(1):17-20.
11. Kluijtmans LA, van den Heuvel LP, Boers GH, Frosst P, Stevens EM, van Oost BA, 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 1996; 58:35-41. Comment in: Am J Hum Genet 1996; 58(1):17-20.
12. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase [letter]. Nat Genet 1995; 10:111-3.
13. Kang SS, Wong PW, Susmono A, Sora J, Norusis M, Riggie N. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet 1991; 48:536-45.
14. Clarke R, Daly L, Robinson K, Naughten E, Cahalane S, Fowler B, et al. Hyperhomocystinemia: an independent risk factor for vascular disease. N Eng J Med 1991; 324:1149-55.
15. Rees MM, Rodgers GM. Homocysteinemia: association of metabolic disorder with vascular disease and thrombosis. Thromb Res 1993; 71:337-59.
16. Ubbink JB, Vermaak WJ, Bennett JM, Becker PJ, van Staden DA, Bissbort S. The prevalence of homocysteinemia and hypercholesterolemia in angiographically defined coronary heart disease. Klin Wochenschr 1991; (16)69:527-34.
17. Arruda VR, von Zuben PM, Chiaparini LC, Annichino Bizzacchi JM, Costa FF. The mutation Ala677→Val in the methylenetetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis. Thromb Haemost 1997; 77:818-21.
18. Wilcken DE, Wang XL, Sim AS, McCredie RM. Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation. Arterioscler Thromb Vasc Biol 1996; 16:878-82.
19. Motulsky AG. Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects and folic acid. Editorial. Am J Hum Genet 1996; 58:17-20.
20. Anderson JL, King GJ, Thomson MJ, Todd M, Bair TL, Muhlestein JB, et al. A mutation in the methylenetetrahydrofolate reductase gene is not associated with increased risk for coronary artery disease or myocardial infarction. J Am Coll Cardiol 1997; 30:1206-11.
21. Verhoef P, Kok FJ, Kluijtmans LA, Blom HJ, Refsum H, Deland 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; 132:105-13.
22. Alfthan G, Pekkanen J, Jauhiainen M, Pitkaniemi J, Karvonen M, Tuomilehto J, et al. Relation of serum homocysteine and lipoprotein(a) concentrations to atherosclerotic disease in a prospective Finnish population based study. Atherosclerosis 1994; 106:9-19.
23. Brulhart M-C, Dussoix P, Ruiz J, Passa P, Froguel Ph, James RW. 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 1997; 60:228-9.
24. Adams M, Smith PD, Martin D, Thompson JR, Lodwick D, Samani NJ. Genetic analysis of thermolabile methylenetetrahydrofolate reductase as a risk factor for myocardial infarction. Q J Med 1996; 89:437-44.
25. Jourdheuil Rahmani D, Rolland PH, Rosset E, Branchereau A, Garcon D. Homocysteine induces synthesis of a serine elastase in arterial smooth muscle cells from multi organ donors. Cardiovasc Res 1997; 34:597-602.
26. Dudman NP, Hicks C, Wang J, Wilcken DE. Human arterial endothelial cell detachment in vitro: its promotion by homocysteine and cysteine. Atherosclerosis 1991; 91:77-83.
27. Wirta O, Pasternack A, Mustonen J, Oksa H, Koivula T, Helin H. Albumin excretion rate and its relation to kidney disease in non-insulin-dependent diabetes mellitus. J Intern Med 1995; 237:367-73.
28. Ulvik A, Refsum H, Klujtmans LAJ, Ueland PM. C677T mutation of methylenetetrahydrofolate reductase gene determined in blood or plasma by multiple-injection capillary electrophoresis and laser-induced fluorescence detection. Clin Chem 1997; 43:2:267-72.