C677T methylene-tetrahydrofolate reductase mutation in type 2 diabetic patients with and without hyperhomocysteinaemia

Diabetes and Metabolism

Volumn 30, Issue 4, 2004, Pages 349-354

  Buysschaert, M ^a   Gala, J L ^b   Bessomo, A ^a   Hermans, M P ^a  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b Defense Laboratories Department   (Belgium)

Author keywords

Complications; Diabetes; Homocysteine; MTHFR; Prevalence

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYTOSINE; HOMOCYSTEINE; THYMINE;

ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DIABETIC ANGIOPATHY; ENVIRONMENTAL FACTOR; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; HEREDITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERHOMOCYSTEINEMIA; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 4644257018     PISSN: 12623636     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1262-3636(07)70127-1     Document Type: Article

References (47)

1. Boushey C, Beresford S, Omenn G, Motulsky A. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA, 1996, 274, 1049-57.
2. Munshi M, Stone A, Fink L, Fonseca V. Hyperhomocysteinaemia following a methionine load in patients with non-insulin-dependent diabetes mellitus and macrovascular disease. Metabolism, 1996, 45, 133-5.
3. Nygärd O, Nordrehaug JE, Refsum H, Ueland PE, Farstad M, Vollset SE. Plasma homocysteine levels and mortality in patients with coronary artery disease. N Engl J Med, 1997, 337, 230-6.
4. Hoogeveen E, Kostense P, Beks PJ, et al. Hyperhomocysteinaemia is associated with an increased risk it cardiovascular disease, especially in non-insulin-dependent diabetes mellitus: a population-based study. Artenoscl Thromb Vasc Biol, 1998, 18, 133-8.
5. Smulders YM, Rakic M, Slaats EH. Fasting and post-methionine homocysteine levels in NIDDM. Determinants and correlations with retinopathy, albuminuria, and cardiovascular disease. Diab Care, 1999, 22, 125-32.
6. Okada E, Oida K, Tada H, et al. Hyperhomocysteinemia is a risk factor for coronary arteriosclerosis in Japanese patients with type 2 diabetes. Diab Care, 1999, 22, 484-90.
7. Hoogeveen EK, Kostense PJ, Jakobs C, et al. Hyperhomocysteinaemia increases risk ot death, especially in type 2 diabetes. 5-year follow-up of the Hoorn study. Circulation, 2000, 101, 1506-11.
8. Buysschaert M, Dramais AS, Wallemacq PE, Hermans MP. Hyperhomocysteinaemia in type 2 diabetes. Relationship to macroangiopathy, nephropathy, and insulin resistance. Diab Care, 2000, 23, 1816-22.
9. Vasan RS, Beiser A, D'Agostino RB. Plasma homocysteine and risk for congestive heart failure in adults without prior myocardial infarction. JAMA, 2003, 289, 1251-7.
10. Becker A, Kostense PJ, Bos G, et al. Hyperhomocysteinaemia is associated with coronary events in type 2 diabetes. J Int Med, 2003, 253, 293-300.
11. De Koning L, Werstuck G, Zhou J, Austin RC. Hyperhomocysteinemia and its role in the development of atherosclerosis. Clin Biochem, 2003, 36, 431-41.
12. Pietrzik K, Brönstrup A. Causes and consequences of hyperhomocyst(e)inemia. Internat J Vit Nutr Res, 1997, 67, 389-95.
13. Welch GN, Loscalzo J. Homocysteine and atherothrombosis. N Engl J Med, 1998, 338, 1042-50.
14. Frosst P, Blom H, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methyletetrahydrofolate reductase. Nat Gen, 1995, 10, 111-3.
15. Girelli D, Friso S, Trabetti E, et al. Methylenetetrahydrofolate reductase C677T mutation, plasma homocysteine, and folate in subjects from Northern Italy with or without angiographically documented severe coronary atherosclerotic disease: evidence for an important genetic-environmental interaction. Blood, 1998, 91, 4158-63.
16. Födinger M, Mannhalter C, Wölfi, et al. Mutation (677C to T) in the methylenetetrahydrofolate reductase gene aggravates hyperhomocysteinemia in hemodialysis patients. Kidney Internat, 1997, 52, 517-23.
17. Kang SS, Wong PW, Malinovv MR. Hyperhomocyst(e)inaemia is a risk factor for occlusive vascular disease. Ann Rev Nutr, 1992, 12, 279-98.
18. Buysschaert M, Hermans MP. Comment je traite et prends en charge une hyperhomocystéinémie. In: Flammarion Médecine Sciences, Paris, Journées de Diab́tologie 2003, pp 229-37.
19. Buysschaert M, Gala JL, Hermans MP. L'homocystéinémie: uten marqueur essentiel en pathologie endocrinienne, aussi. In: Mises au point cliniques d'endocrinologie, nutrition et métabolisme, Paris, Journées Françaises d'Endocrinologie Clinique, Nutrition et Métabolisme, 2003, pp 169-180.
20. Hermans MP, Levy JC, Morris RJ, Turner RC. Comparison of tests of $-cell function across a range of glucose tolerance from normal to diabetes. Diabetes, 1999, 48, 1779-86.
21. OMIM™: Online Mendelian Inheritance in Man. http://www.ncbi.nlm. nih.gov/omim/
22. Hultberg B, Agardh CD, Agardh E, Lovenstam-Adrian M. Poor metabolic control, early age at onset and marginal folate deficiency are associated with increasing levels of plasma homocysteine in insulin-dependent diabetes mellitus. A five-year follow-up study. Scand J Clin Lab Invest, 1997, 57, 595-600.
23. Wollesen F, Brattstrom L, Refsum H, Ueland P, Berglund L, Berne C. Plasma total homocysteine and cysteine in relation to glomerular filtration in diabetes mellitus. Kidney Int, 1999, 55, 1028-35.
24. Buysschaert M, Jamart J, Dramais AS, Wallemacq P, Hermans MP. Micro- and macrovascular complications and hyperhomocysteinaemia in type 1 diabetic patients. Diabetes Metab, 2001, 27, 655-9.
25. de Lorgeril M, Salen P, Paillard F, Lacan Ph, Richard G. Lipid-lowering drugs and homocysteine. The Lancet, 1999, 353, 209-10.
26. Kang S. Treatment of hyperhomocysteinemia: physiological basis. J Nutr, 1996, 126, 1273S-75S.
27. Benmerabet S, Fredenrich A, Robillon JF, et al. Faut-il doser l'homocystéine chez le patient diabétique? [Clinical relevance of homocysteine monitoring in the diabetic patient]. Diabetes Metab, 2002, 28, 510-5.
28. Soinio M, Marniemi J, Laakso M Lehto S, Rönnemaa T. Elevated plasma homocysteine level is an independent, predictor of coronary heart disease events in patients with type 2 diabetes mellitus. Ann Intern Med, 2004, 140, 94-100.
29. Stanger O, Herrmann W, Pietrzik K, et al. DACH-LIGA Homocystein (German, Austrian and Swiss Homocysteine Society): consensus paper on the rational clinical use of homocysteine, folic acid and B-vitamins in cardiovascular and thrombotic diseases: guidelines and recommendations. Clin Chem Lab Med, 2003, 41, 1392-403.
30. Brattström L, Wilcken DEL, Ohrvik J, Brudin L. Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease. The result of a meta-analysis. Circulation, 1998, 98, 2520-6.
31. Kluijtmans LA, Young S, Boreham CA, et al. Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults. Blood, 2003, 101, 2483-88.
32. 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 populations. EARS group. Atherosclerosis, 1998, 136, 347-54.
33. Whitehead AS, Gallagher P, Milis JL, et al. A genetic defect in 5,10-methylene-tetrahydrofolate reductase in neural tube defects. Q J Med, 1995, 88, 763-6.
34. Guttormsen A, Ueland P, Nesthus I, et al. Determinants and vitamin responsiveness of intermediate hyperhomocysteinaemia (≥ 40 μmol/liter), the Hordaland Homocysteine Study. J Clin Invest, 1996, 98, 2174-83.
35. de Bree A, Verschuren M, Bjorke-Monsen AL, et al. Effect of the methylenetetrahydrofolate reductase 677C→T mutation on the relations among folate intake and plasma folate and homocysteine concentrations in a general population sample. Am J Clin Nutr, 2003, 77, 687-93.
36. Nelen WL, Blom HJ, Thomas CN, Steegers EA, Boers GH, Eskes TK. Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting form low dose folic acid supplementation in women with unexplained recurrent miscarriages. J Nutr, 1998, 128, 1336-41.
37. Födinger M, Hörl WH, Sunder-Plassmann G. Molecular biology of 5,10-methylenetetrahydrofolate reductase. J Nephrol, 1999, 13, 1-17.
38. Folsom A, Nieto F, McGovern P, et al. 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.
39. Brulhart MC, Dussoix P, Ruiz J, Passa P, Froguel PH, James RW. The (Ala Val) mutation of methylenetetrahydrofolate reductase as a genetic factor for vascular disease in non-insulin-dependent diabetic patients. Am J Hum Genet, 1997, 60, 228-9.
40. Scaglione L, Gambino R, Rolfo E, et al. Plasma homocysteine, methylenetetrahydrofolate reductase gene polymorphism and carotid intima-media thickness in Italian type 2 diabetic patients. Eur J Clin Invest, 2002, 32, 24-8.
41. Arai K, Yamasaki Y, Kajimoto Y, et al. Association of rnethylenetetrahyrofolate reductase gene polymorphism with carotid arterial wall thickening and myocardial infarction risk in NIDDM. Diabetes, 1997, 46, 2102-4.
42. Hasegawa G, Obayashi H, Kamiuchi K, et al. The association between end-stage diabetic nephropathy and methylenetetrahydrofolate reductase genotype with macroangiopathy in type 2 diabetes mellitus. Exp Clin Endocrinol Diabetes, 2003, 132-8.
43. Klerk M, Verhoef P, Clarke R, et al. MTHFR 677C→T polymorphism and risk of coronary heart disease: a meta-analysis. JAMA, 2002, 288, 2023-31.
44. Fujita H, Narita T, Meguro H, et al. No association between MTHFR gene polymorphism and diabetic nephropathy in Japanese type II diabetic patients with proliferative diabetic retinopathy. J Diab Complications, 1999, 13, 284-7.
45. Moczulski D, Fojcik H, Zukowska-Szczechowska E, Szydlowska I, Grzeszczak W. Effects of the C677T and A1298C polymorphisms of the MTHFR gene on the genetic predisposition for diabetic nephropathy. Nephrol Dial Transplant, 2003, 1535-40.
46. Maeda M, Yamamoto I, Fukuda M, et al. MTHFR gene polymorphism as a risk factor for diabetic retinopathy in type 2 diabetic patients without serum creatinine elevation. Diab Care, 2003, 26, 547-8.
47. Wirta V, Saransaari P, Wirta O, et al. Methylenetetrahydrofolate reductase gene polymorphism, hyperhomocysteinemia and occlusive retinal vascular disease in type 2 diabetic and non-diabetic subjects. Clin Nephrol, 2002, 58, 171-8.