Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease

American Journal of Human Genetics

Volumn 58, Issue 1, 1996, Pages 35-41

  Kluijtmans, Leo A J ^a   Van Den Heuvel, Lambert P W J ^a   Boers, Godfried H J ^a   Frosst, Phyllis ^b   Stevens, Erik M B ^a   Van Oost, Bernard A ^a   Heijer, Martin Den ^c   Trijbels, Frans J M ^a   Rozen, Rima ^b   Blom, Henk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c Municipal Hospital Leyenburg   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD LEVEL; CARDIOVASCULAR DISEASE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; METABOLIC DISORDER; MOLECULAR GENETICS; PRIORITY JOURNAL;

TRIXIS;

EID: 0029655724     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Boers GHJ (1986) Homocystinuria: a risk factor of premature vascular disease. Clinical research series no 3. Holland/Riverton, Dordrecht
2. Boers GHJ, Fowler B, Smals AGH, Trijbels JMF, Leermakers AI, Kleijer WJ, Kloppenborg PWC (1985a) Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts. Hum Genet 69:164-169
3. Boers GHJ, Smals AGH, Trijbels JMF, Fowler B, Bakkeren JAJM, Schoonderwaldt HC, Kleijer WJ, et al (1985b) Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. N Engl J Med 313:709-715
4. Brattström L, Israelsson B, Norrving B, Bergqvist D, Thorne J, Hultberg B, Hamfelt A (1990) Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Atherosclerosis 81:51-60
5. Clarke R, Daly L, Robinson K, Naughten E, Cahalane S, Fowler B, Graham I (1991) Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med 324:1149-1155
6. Daly L, Robinson K, Tan KS, Graham IM (1993) Hyperhomocysteinemia: a metabolic risk factor for coronary heart disease determined by both genetic and environmental influences? Q J Med 86:685-689
7. Den Heijer M, Blom HJ, Gerrits WBJ, Rosendaal FR, Haak HL, Wijermans PW, Bos GMJ (1995) Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? Lancet 345:882-885
8. Engbersen AMT, Franken DG, Boers GHJ, Stevens EMB, Trijbels JMF, Blom HJ (1995) Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 56:142-150
9. Finkelstein JD, Mudd HS, Laster FIK (1964) Homocystinuria due to cystathionine synthetase deficiency: the mode of inheritance. Science 146:785-787