Croatian population data for the C677T polymorphism in methylenetetrahydrofolate reductase: Frequencies in healthy and atherosclerotic study groups

Clinica Chimica Acta

Volumn 335, Issue 1-2, 2003, Pages 95-100

  Žuntar, Irena ^a   Topić, Elizabeta ^b   Vukosavić, Duro ^c   Vuković, Vlasta ^d   Demarin, Vida ^d   Begonja, Antonija ^b   Antoljak, Nataša ^b   Šimundić, Ana Maria ^b  

^a UNIVERSITY OF ZAGREB   (Croatia)

^b UNIVERSITY OF ZAGREB   (Croatia)

^c UNIVERSITY OF ZAGREB   (Croatia)

^d SESTRE MILOSRDNICE UNIVERSITY HOSPITAL   (Croatia)

Author keywords

Carotid stenosis; Coronary heart disease; Croatian population; Genotype; MTHFR

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ADULT; AGED; ARTICLE; ATHEROGENESIS; ATHEROSCLEROSIS; CARDIOVASCULAR DISEASE; CAROTID ARTERY OBSTRUCTION; CONTROLLED STUDY; CROATIA; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; POPULATION RESEARCH; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0242317399     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(03)00283-3     Document Type: Article

References (29)

1. Lusis A.J. Atherosclerosis. Nature. 407:2000;233-241.
2. Hegele R.A. The pathogenesis of atherosclerosis. Clin. Chim. Acta. 246:1995;21-38.
3. Bolandre-Gouaille C. Determination of homocysteine, why, when and how. Bryne Offset, 1999.
4. 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.
5. Kang S.S., Wong P.W.K., Susmano A., Sora J., Norusis M., Riggie N. Thermolabile methylenetetrahydroflate reductase: an inherited risk factor for coronary artery disease. Am. J. Hum. Genet. 48:1991;536-545.
6. Kluijtmans L.A.J., Vandenheuvel 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.
7. Bova I., Chapman J., Sylantiev C., Korcyzin A.D., Bornstein N.M. The A677V methylenetetrahydrofolate reductase gene polymorphism and carotid atherosclerosis. Stroke. 30:1999;2180-2182.
8. Dunn J., Title L.M., Bata I.et al. Relation of a common mutation in methylenetetrahydrofolate reductase to plasma homocysteine and early onset coronary artery disease. Clin. Biochem. 31:1998;95-100.
9. Verhoeff B.J., Trip M.D., Prins M.H., Kastelein J.J.P., Reitsman P.H. The effect of a common methylenetetrahydrofolate reductase mutation on levels of homocysteine, folate, vitamin B12 and on risk of premature atherosclerosis. Atherosclerosis. 141:1998;161-166.
10. Herrmann W., Quest S., Ullrich M., Schultze H., Bodis M., Geisel J. Hyperhomocysteinemia in high-aged subjects: relation of B-vitamins, folic acid, renal function and the methylenetetrahydrofolate reductase mutation. Atherosclerosis. 144:1999;91-101.
11. Salooja N., Catto A., Carter A., Tudenham E.G.D., Grant P.J. Methylenetetrahydrofolate reductase C677T genotype and stroke. Clin. Lab. Haematol. 20:1998;357-361.
12. Kostulas K., Crisby M., Huang W.X.et al. A methylenetetrahydrofolate reductase gene polymorphism in ischemic stroke. Eur. J. Clin. Investig. 28:1998;285-289.
13. Thuiller L., Chadefaux-Vekemans B., Bonnefont J.P.et al. Does the polymorphism C677T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease? J. Inherit. Met. Dis. 21:1998;812-822.
14. Fletcher O., Kessling A.M. MTHFR association with arteriosclerotic vascular disease? Hum. Genet. 103:1998;11-21.
15. Topić E., Gluhak J. Isolation of restrictible DNA. Eur. J. Clin. Chem. Biochem. 29:1991;327-330.
16. Topić E., Štefanović M., Nikolić V., Zoricić I., Ivanišević A.M., Zuntar I. Detection of CYP2D6* and 2D64 alleles variants by PCR-restriction fragment length polymorphism. Clin. Chem. Lab. Med. 36:1998;655-658.
17. Hutchon DJR, BSc, MB, ChB, FRCOG Consultant Gynaecologist, Memorial Hospital, Darlington, England. http://www.hutchon.freeserve.co.uk/ConfidOR.htm .
18. Rozen R. Molecular biology of methylenetetrahydrofolate reductase (MTHFR). interrelationship with folic acid, homocysteine and vascular disease. Robinson K. Homocysteine and vascular disease. 2000;271-289 Kluwer Academic Publishing, The Netherlands.
19. Cattaneo M., Tsai M.Y., Bucciarelli Pet al. A common mutation in the methylenetetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutation factor V (factor V:Q506). Arterioscler. Thromb. Vasc. Biol. 17:1997;1662-1666.
20. Motulsky A.G. Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. Am. J. Hum. Genet. 58:1996;17-20.
21. Kirke P.N., Mills J.L., Whitehead A.S., Molloy A., Scott J.M. Methylenetetrahydrofolate reductase mutation and neural tube defects. Lancet. 348:1996;1037-1038.
22. Mornet E., Muller F., Lenvoise-Furet A.et al. Screening of the C677T mutation in the methylenetetrahydrofolate reductase gene in French patients with neural tube defects. Hum. Genet. 100:1997;512-514.
23. Födinger M., Mannhalter C., Wölfli G.et al. Mutation (677 C to T) in the methylenetetrahydrofolate reductase gene aggravates hyperhomocysteinemia in hemodialysis patients. Kidney Int. 52:1997;517-523.
24. Huang W.X., He B., Hillert J. A methylenetetrahydrofolate reductase gene polymorphism in multiple sclerosis. Eur. J. Neurol. 4:1997;185-187.
25. 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.
26. Gudnason V., Stansbie D., Scott J., Bowron A., Nicaud V., Humphries S. C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): its frequency and impact on plasma homocysteine concentration in different European population. Atherosclerosis. 136:1998;347-354.
27. Kluijtmans L.A.J., Kastelen J.J.P., Lindemans J.et al. Thermolabile methylenetetrahydrofolate reductase in coronary artery disease. Circulation. 96:1997;2573-2577.
28. Brattstrom L., Wilcken D.E.L., Ohrvik J., Brudin L. The common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease. Circulation. 98:1998;2520-2526.
29. Kang S.S., Wong P.W.K. Genetic and nongenetic factors for moderate hyperhomocyst(e)inemia. Atherosclerosis. 119:1996;135-138.