MTHFR association with arteriosclerotic vascular disease?

Human Genetics

Volumn 103, Issue 1, 1998, Pages 11-21

  Fletcher, Olivia ^a   Kessling, Anna M ^a  

^a ST MARK S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); HOMOCYSTEINE;

ALLELE; ARTERIOSCLEROSIS; ARTICLE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; HUMAN; HYPERHOMOCYSTEINEMIA; POINT MUTATION; PRIORITY JOURNAL;

ALLELES; ARTERIOSCLEROSIS; DATABASES, BIBLIOGRAPHIC; FOLIC ACID; GENETIC PREDISPOSITION TO DISEASE; HOMOCYSTEINE; HOMOZYGOTE; HUMANS; MEDLINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; POINT MUTATION;

EID: 0031662210     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050776     Document Type: Article

References (53)

1. Adams M, Smith PD, Martin D, Thompson JR, Lodwick D, Samani NJ (1996) Genetic analysis of thermolabile methylenetetrahydrofolate reductase as a risk factor for myocardial infarction. Q J Med 89:437-444
2. Arruda VR, Von Zuben PM, Chiaparini LC, AnnichinoBizzacchi JM, Costa FF (1997) The mutation Ala 677→Val in the methylene tetrahydrofolate reductase gene:a risk factor for arterial disease and venous thrombosis. Thromb Haemost 77:818-821
3. Austin H, Hooper WC, Dilley A, Drews C, Renshaw M, Ellingsen D, Evatt B (1997) The prevalence of two genetic traits related to venous thrombosis in Whites and African-Americans. Thromb Res 86:409-415
4. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG (1995) A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. JAMA 274:1049-1057
5. Brugada R, Marian AJ (1997) A common mutation in methylene tetrahydrofolate reductase gene is not a major risk of coronary artery disease or myocardial infarction. Atherosclerosis 128:107-112
6. Brulhart MC, Dussoix P, Ruiz J, Passa P, Froguel P, James RW (1997) 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 60:228-229
7. Casagrande JT, Pike MC, Smith PG (1978) An improved approximate formula for calculating sample sizes for comparing two binomial distributions. Biometrics 34:483-486
8. Chen J, Giovannucci E, Kelsey K, Rimm EB, Stampfer MJ, Colditz GA, Spiegelman D, Willett WC, Hunter DJ (1996) A methylene tetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res 56:4862-4864
9. Christensen B, Frosst P, Lussier-Cacan S, Selhub J, Goyette P, Rosenblatt DS, Genest J, Rozen R (1997) Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease. Arterioscler Thromb Vasc Biol 17:569-573
10. Cooper DN, Clayton JF (1988) DNA polymorphism and the study of disease associations. Hum Genet 78:299-312
11. Deloughery TG, Evans A, Sadeghi A, McWilliams J, Henner WD, Taylor LM, Press RD (1996) Common mutation in methylene tetrahydrofolate reductase:correlation with homocysteine metabolism and late-onset vascular disease. Circulation 94:3074-3078
12. Engbersen AMT, Franken DG, Boers GHJ, Stevens EMB, Trijbels FJM, Blom HJ (1995) Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 56:142-150
13. Franchis R de, Sebastio G, Mandato C, Andria G, Mastroiacavo P (1995) Spina bifida, 677T-C mutation, and role of folate. Lancet 346:1703
14. Franchis R de, Mancini FP, D'Angelo A, Sebastio G, Fermo I, Stephane V de, Margaglione M, Mazzola G, Minno G di, Andria G (1996) Elevated total plasma homocysteine and 677C→T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease. Am J Hum Genet 59:262-264
15. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, Heijer M den, Kluijtmans LAJ, Van den Heuvel LP, Rozen R (1995) A candidate genetic risk factor for vascular disease:a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113
16. Galinsky D, Tysoe C, Brayne CE, Easton DF, Huppert FA, Dening TR, Paykel ES, Rubinsztein DC (1997) Analysis of the apo E/apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity. Atherosclerosis 129:177-183
17. Gallagher PM, Meleady R, Shields DC, Tan KS, McMaster D, Rozen R, Evans A, Graham IM, Whitehead AS (1996) Homocysteine and risk of premature coronary heart disease:evidence for a common gene mutation. Circulation 94:2154-2158
18. Goyette P, Sumner JS, Milos R, Duncan AMY, Rosenblatt DS, Matthew RG, Rozen R (1994) Human methylenetetrahydrofolate reductase:isolation of cDNA, mapping and mutation identification. Nat Genet 7:195-200
19. Goyette P, Frosst P, Rosenblatt DS, Rozen R (1995) Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetelrahydrofolate reductase deficiency. Am J Hum Genet 56:1052-1059
20. Guttormsen AB, Ueland PM, Nesthus I, Nygard O, Schneede J, Vollset SE, Refsum H (1996) Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia. J Clin Invest 98:2174-2183
21. Harmon DL, Woodside JV, Yarnell JWG, McMaster D, Young IS, McCrum EE, Gey KF, Whitehead AS, Evans AE (1996) The common "thermolabile" variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia. Q J Med 89:571-577
22. Huang W-X, He B, Hillert J (1997) A methylenetetrahydrofolate reductase gene polymorphism in multiple sclerosis. Eur J Neurol 4:185-187
23. Izumi M, Iwai N, Ohmichi N, Nakamura Y, Shimoike H, Kinoshita M (1995) Molecular variant of 5,10-methylenetetrahydrofolate reductase is a risk factor of ischemic heart disease in the Japanese population. Atherosclerosis 121:293-294
24. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J, Rozen R (1996) Relation between folate status, a common mutation methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93:7-9
25. Kang SS, Zhou J, Wong PWK, Kowalisyn J, Strokosch G (1988) Intermediate homocysteinemia:a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet 43:414-421
26. Kessling A, Ouellette S, Bouffard O, Chamberland A, Betard C, Selinger E, Xhignesse M, Lussier-Cacan S, Davignon J (1991) Patterns of association between genetic variability in apolipoprotein (Apo) B, Apo AI-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits:influence of gender and exogenous hormones. Am J Hum Genet 50:92-106
27. Kirke PN, Mills JL, Whitehead AS, Molloy A, Scott JM (1996) Methylenetetrahydrofolate reductase mutation and neural tube defects. Lancet 348:1037-1038
28. Kluitjmans LAJ, Blom HJ, Boers GHJ, Van Oost BA, Trijbels FJM, Van den Heuvel LPWJ (1995) Two novel missense mutationsin the cystathionine B-synthase gene in homocystinuric patients. Hum Genet 96:250
29. Kluijtmans LAJ, Van den Heuvel LPWJ, Boers GHJ, Frosst P, Stevens EMB, Van Oost BA, Heijer M den, Trijbels FJM, Rozen R, Blom HJ (1996) 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 58:35-41
30. Kraus JP (1994) Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis 17:383-390
31. Lander ES, Schork NJ (1994) Genetic dissection of complex traits. Science 265:2037-2048
32. Ma J, Stampfer MJ, Hennekens CH, Frosst P, Selhub J, Horsford J, Malinow MR, Willett WC, Rozen R (1996) Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation 94:2410-2416
33. Ma J, Stampfer MJ, Giovannucci E, Artigas C, Hunter DJ, Fuchs C, Willett WC, Selhub J, Hennekens CH, Rozen R (1997) Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res 57:1098-1102
34. Malinow MR, Nieto FJ, Kruger WD, Duell PB, Hess DL, Gluckman RA, Block PC, Holzgang CR, Anderson PH, Seltzer D, Upson B, Lin QR (1997) The effects of folic acid supplementation on plasma total homocysteine are modulated by multivitamin use and methylenetetrahydrofolate reductase genotypes. Arterioscler Thromb Vase Biol 17:1157-1162
35. McAndrew PE, Brandt JT, Pearl DK, Prior TW (1996) The incidence of the gene for thermolabile methylene tetrahydrofolate reductase in African Americans. Thromb Res 83:195-198
36. Molloy AM, Daly S, Mills JL, Kirke PN, Whitehead AS, Ramsbottom D, Conley MR, Weir DG, Scott JM (1997) Thermolabile variant of 5, 10-methylcnctetrahydrofolate reductase associated with low red-cell folates:implications for folate intake recommendations. Lancet 349:1591-1593
37. Morita H, Taguchi JI, Kurihara H, Kitaoka M, Kaneda H, Kurihara Y, Maemura K, Shindo T, Minamino T, Ohno M, Yamaoki K, Ogasawara K, Aizawa T, Suzuki S, Yazaki Y (1997) Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease. Circulation 95:2032-2036
38. Motulsky AG (1996) Nutritional ecogenetics:homocy steine-related arteriosclerotic vascular disease, neural tube defects and folic acid. Am J Hum Genet 58:17-20
39. Narang R, Callaghan G, Haider AW, Davies GJ, Tuddenham EG (1996) Methylenetetrahydrofolate reductase mutation and coronary artery disease. Circulation 94:2322-2323
40. Nishio H, Lee MJ, Fujii M, Kario K, Kayaba K, Shimada K, Matsuo M, Sumino K (1996) A common mutation in methylenetetrahydrofolate reductase gene among the Japanese population. Jpn J Hum Genet 41:247-251
41. Ou CY, Stevenson RE, Brown VK, Schwartz CE, Allen WP, Khoury MJ, Rozen R, Oakley GP, Adams MJ (1996) 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 63:610-614
42. Papapetrou C, Lynch SA, Burn J, Edwards YH (1996) Methylenetetrahydrofolate reductase and neural tube defects. Lancet 348:58
43. Rosenblatt DS (1989) Inherited disorders of folate transport and metabolism. In:Scriver CR, Beaudet AL, Sly Ws, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 2049-2064
44. Schmitz C, Lindpaintner K, Verhoef P, Gaziano JM, Buring J (1996) Genetic polymorphism of methylenetetrahydrofolate reductase and myocardial infarction:a case-control study. Circulation 94:1812-1814
45. Stevenson RE, Schwartz CE, Du YZ, Adams MJ (1997) Differences in methylenetetrahydrofolate reductase genotype frequencies, between Whites and Blacks. Am J Hum Genet 60:229-230
46. Strachan T, Read AP (1996) Human molecular genetics. BIOS Scientific, Oxford
47. Tunstall-Pedoe H, Kuulasmaa K, Amouyel P, Arveiler D, Rajakangas A-M, Pajak A (1994) Myocardial infarction and coronary deaths in the World Health Organisation MONICA project. Circulation 90:583-612
48. Tysoe C, Galinsky D, Robinson D, Brayne CE, Easton DF, Huppert FA, Dening T, Paykel ES, Rubinsztein DC (1997) Analysis of alpha-1 antichymotrypsin, presenilin-1, angiotensin-converting enzyme, and methylenetetrahydrofolate reductase loci as candidates for dementia. Am J Med Genet Neuropsychiatr Genet 74:207-212
49. Van Bockxmeer FM, Mamotte CDS, Vasikaran SD, Taylor RR (1997) Methylenetetrahydrofolate reductase gene and coronary artery disease. Circulation 95:21-23
50. Van Der Putt NMJ, Steegers-Theunissen RPM, Frosst P, Trijbels FJM, Eskes TKA, Van den Heuvel LP, Mariman ECM, Heijer M den, Rozen R, Blom HJ (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070-1071
51. Whitehead AS, Gallagher P, Mills JL, Kirke PN, Burke H, Molloy AM, Weir DG, Shields DC, Scott JM (1995) A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. Q J Med 88:763-766
52. Wilcken DEL, Wang XL (1996) Relevance to spina bifida of mutated methylenetetrahydrofolate reductase. Lancet 347:340
53. Wilcken DEL, Wang XL, Sim AS, McCredie RM (1996) Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHRF) C-677T mutation. Arterioscler Thromb Vase Biol 16:878-882