Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?

作者: L. Thuillier , B. Chadefaux-Vekemans , J. P. Bonnefont , A. Kara , J. Aupetit

DOI: 10.1023/A:1005414617390

关键词:

摘要: Whether the 677C-T polymorphism of methylene tetrahydrofolate reductase (MTHFR) gene acts as a risk factor for homocysteine-related vascular disease remains matter debate. Testing nucleotide substitution and assay plasma homocysteine were carried out simultaneously in 69 controls 113 patients from Paris area. The variant frequency well homozygous genotype very similar patients. Conversely, levels substantially higher than controls. A slight interaction between MTHFR homocysteinaemia was observed patient group only, while negative correlation fasting folate found all individuals genotype, irrespective disease. These data suggest that is not major determinant but contributes to increased concentration conjunction with low levels.

参考文章(32)
Paula M von Zuben, Luiz C Chiaparini, Joyce M Annichino-Bizzacchi, Fernando F Costa, Valder R Arruda, The mutation Ala677-->Val in the methylene tetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis. Thrombosis and Haemostasis. ,vol. 77, pp. 818- 821 ,(1997) , 10.1055/S-0038-1656059
I. Fermo, G. di Minno, G. Andria, M. Margaglione, G. Sebastio, A. D'Angelo, V. de Stefano, F. P. Mancini, R. de Franchis, G. Mazzola, Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease. American Journal of Human Genetics. ,vol. 59, pp. 262- 264 ,(1996)
Godfried H. J. Boers, Frans J. M. Trijbels, Diana G. Franken, Erik M. B. Stevens, Henk J. Blom, Astrid M. T. Engbersen, Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia American Journal of Human Genetics. ,vol. 56, pp. 142- 150 ,(1995)
M. Norusis, J. Sora, N. Ruggie, Soo-Sang Kang, P. W. K. Wong, A. Susmano, Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. American Journal of Human Genetics. ,vol. 48, pp. 536- 545 ,(1991)
A. G. Motulsky, Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. American Journal of Human Genetics. ,vol. 58, pp. 17- 20 ,(1996)
B Chadefaux, M Coudé, M Hamet, J Aupetit, P Kamoun, Rapid determination of total homocysteine in plasma. Clinical Chemistry. ,vol. 35, pp. 2002- 2002 ,(1989) , 10.1093/CLINCHEM/35.9.2002
Philippe Goyette, James S. Sumner, Renate Milos, Alessandra M.V. Duncan, David S. Rosenblatt, Rowena G. Matthews, Rima Rozen, Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification Nature Genetics. ,vol. 7, pp. 195- 200 ,(1994) , 10.1038/NG0694-195
Meir J. Stampfer, M. Rene Malinow, Can Lowering Homocysteine Levels Reduce Cardiovascular Risk The New England Journal of Medicine. ,vol. 332, pp. 328- 329 ,(1995) , 10.1056/NEJM199502023320511
Jacques J. Genest, Judith R. McNamara, Deeb N. Salem, Peter W.F. Wilson, Ernst J. Schaefer, M.Rene Malinow, Plasma homocyst(e)ine levels in men with premature coronary artery disease. Journal of the American College of Cardiology. ,vol. 16, pp. 1114- 1119 ,(1990) , 10.1016/0735-1097(90)90542-W
J. Marquet, B. Chadefaux, J. P. Bonnefont, J. M. Saudubray, J. Zittoun, Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies Prenatal Diagnosis. ,vol. 14, pp. 29- 33 ,(1994) , 10.1002/PD.1970140106