Access the full text.
Sign up today, get DeepDyve free for 14 days.
D. Wilcken, B. Wilcken (1976)
The pathogenesis of coronary artery disease. A possible role for methionine metabolism.The Journal of clinical investigation, 57 4
E. Arnesen, H. Refsum, K. Bønaa, P. Ueland, O. Førde, J. Nordrehaug (1995)
Serum total homocysteine and coronary heart disease.International journal of epidemiology, 24 4
Shirley Miller, D. Dykes, H. Polesky (1988)
A simple salting out procedure for extracting DNA from human nucleated cells.Nucleic acids research, 16 3
M. Gaustadnes, L. Kluijtmans, Ole Jensen, K. Rasmussen, S. Heil, J. Kraus, H. Blom, J. Ingerslev, N. Rüdiger (1998)
Detection of a novel deletion in the cystathionine β‐synthase (CBS) gene using an improved genomic DNA based method 1FEBS Letters, 431
M. Stampfer, M. Malinow, W. Willett, L. Newcomer, B. Upson, D. Ullmann, P. Tishler, C. Hennekens (1992)
A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians.JAMA, 268 7
A. George (1961)
The metabolic basis of inherited diseaseThe Journal of Pediatrics, 58
Soo-Sang Kang, W. Paul, K., Wong, Heron Cook, Marija Norusis, Joseph, V., Messer (1986)
Protein-bound homocyst(e)ine. A possible risk factor for coronary artery disease.The Journal of clinical investigation, 77 5
D. Murphy-Chutorian, M. Wexman, A. Grieco, J. Heininger, E. Glassman, G. Gaull, Steven Ng, F. Feit, Karen Wexman, A. Fox (1985)
Methionine intolerance: a possible risk factor for coronary artery disease.Journal of the American College of Cardiology, 6 4
Hamburg, recruitment centre and laboratory. Greece : G. Tsitouris, N. Papageorgakis, Department of Medicine and Cardiology, Evangelismos Hospital, Athens, recruitment centre
M. Malinow, S. Kang, L. Taylor, P. Wong, B. Coull, T. Inahara, D. Mukerjee, G. Sexton, B. Upson (1989)
Prevalence of hyperhomocyst(e)inemia in patients with peripheral arterial occlusive disease.Circulation, 79 6
S. Henauw, G. Backer, F. Cambien, Dsj Oreilly, J. Shepherd, M. Galteau (1994)
The European Atherosclerosis Research Study (EARS): design and objectives.International journal of epidemiology, 23 3
P. Frosst, H. Blom, R. Milos, P. Goyette, C. Sheppard, R. Matthews, G. Boers, M. Heijer, L. Kluijtmans, L. Heuve, R. Rozen (1995)
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductaseNature Genetics, 10
Jing Ma, M. Stampfer, C. Hennekens, P. Frosst, J. Selhub, J. Horsford, M. Malinow, W. Willett, R. Rozen (1996)
Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians.Circulation, 94 10
M. Bolla, L. Haddad, S. Humphries, A. Winder, I. Day (1995)
High-throughput method for determination of apolipoprotein E genotypes with use of restriction digestion analysis by microplate array diagonal gel electrophoresis.Clinical chemistry, 41 11
A. Guttormsen, P. Ueland, I. Nesthus, O. Nygård, J. Schneede, S. Vollset, H. Refsum (1996)
Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (> or = 40 micromol/liter). The Hordaland Homocysteine Study.The Journal of clinical investigation, 98 9
M. Malinow, F. Nieto, M. Szklo, L. Chambless, G. Bond (1993)
Carotid artery intimal-medial wall thickening and plasma homocyst(e)ine in asymptomatic adults. The Atherosclerosis Risk in Communities Study.Circulation, 87 4
Astrid Engbersen, D. Franken, G. Boers, E. Stevens, F. Trijbels, H. Blom (1995)
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.American journal of human genetics, 56 1
M. Malinow, P. Ducimetiere, G. Luc, A. Evans, D. Arveiler, F. Cambien, B. Upson (1996)
Plasma homocyst(e)ine levels and graded risk for myocardial infarction: findings in two populations at contrasting risk for coronary heart disease.Atherosclerosis, 126 1
R. Clarke, L. Daly, K. Robinson, E. Naughten, S. Cahalane, B. Fowler, I. Graham (1991)
Hyperhomocysteinemia: an independent risk factor for vascular disease.The New England journal of medicine, 324 17
T. Fiskerstrand, H. Refsum, G. Kvalheim, P. Ueland (1993)
Homocysteine and other thiols in plasma and urine: automated determination and sample stability.Clinical chemistry, 39 2
L. Brattstrom, J. Hardebo, B. Hultberg (1984)
Moderate Homocysteinemia - A Possible Risk Factor For Arteriosclerotic Cerebrovascular DiseaseStroke, 15
B. Giusti, P. Comeglio, M. Attanasio, A. Gori, T. Brunelli, D. Prisco, G. Pepe, G. Gensini, R. Abbate (1997)
Different Distribution of the Double Mutant “T833C/68 bp Insertion” in Cystathionine β-Synthase Gene in Northern and Southern Italian PopulationsThrombosis and Haemostasis, 78
Denmark : O. Faegerman, C. Gerdes, Medical Department I, Aarhus Amtssygehus, Aarhus, recruitment centre. Estonia : M. Saava, Department of Nutrition and Metabolism
D. Rosenblatt (1989)
Inherited disorders of folate transport and metabolism
Michael Tsai, M. Bignell, K. Schwichtenberg, N. Hanson (1996)
High prevalence of a mutation in the cystathionine beta-synthase gene.American journal of human genetics, 59 6
B. Israelsson, L. Brattström, B. Hultberg (1988)
Homocysteine and myocardial infarction.Atherosclerosis, 71 2-3
G. Boers, A. Smals, F. Trijbels, B. Fowler, J. Bakkeren, H. Schoonderwaldt, W. Kleijer, P. Kloppenborg (1985)
Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease.The New England journal of medicine, 313 12
D. Wilcken, Sri Reddy, V. Gupta (1983)
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria.Metabolism: clinical and experimental, 32 4
D. Harmon, J. Woodside, J. Yarnell, D. Mcmaster, I. Young, E. McCrum, K. Gey, A. Whitehead, A. Evans (1996)
The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia.QJM : monthly journal of the Association of Physicians, 89 8
J. Kraus, Kim Le, M. Swaroop, Toshihiro Ohura, Takahiro Tahara, Leon Rosenberg, Michael Roper, Viktor Kožlch (1993)
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.Human molecular genetics, 2 10
P. Jacques, A. Bostom, Roger Williams, R. Ellison, J. Eckfeldt, I. Rosenberg, J. Selhub, R. Rozen (1996)
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.Circulation, 93 1
M. Nei (1987)
Molecular Evolutionary Genetics
V. Kožich, E. Kraus, R. Franchis, B. Fowler, G. Boers, I. Graham, J. Kraus (1995)
Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.Human molecular genetics, 4 4
L. Tiret, P. Amouyel, R. Rakotovao, F. Cambien, P. Ducimetiere (1991)
Testing for association between disease and linked marker loci: a log-linear-model analysis.American journal of human genetics, 48 5
L. Kluijtmans, L. Heuvel, G. Boers, P. Frosst, E. Stevens, B. Oost, M. Heijer, F. Trijbels, R. Rozen, H. Blom (1996)
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, 58 1
Soo-Sang Kang, P. Wong (1996)
Genetic and nongenetic factors for moderate hyperhomocyst(e)inemia.Atherosclerosis, 119 2
C. Maclean, N. Morton, D. Rao (1985)
Estimation of myriad haplotype frequenciesGenetic Epidemiology, 2
J. Genest, J. Mcnamara, D. Salem, D. Salem, P. Wilson, E. Schaefer, M. Malinow (1990)
Plasma homocyst(e)ine levels in men with premature coronary artery disease.Journal of the American College of Cardiology, 16 5
I. Day, S. Humphries (1994)
Electrophoresis for genotyping: microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose.Analytical biochemistry, 222 2
J. Selhub, P. Jacques, A. Bostom, R. D’Agostino, P. Wilson, A. Belanger, D. O'leary, P. Wolf, E. Schaefer, I. Rosenberg (1995)
Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis.The New England journal of medicine, 332 5
G. Alfthan, J. Pekkanen, M. Jauhiainen, J. Pitkäniemi, M. Karvonen, J. Tuomilehto, J. Salonen, C. Ehnholm (1994)
Relation of serum homocysteine and lipoprotein(a) concentrations to atherosclerotic disease in a prospective Finnish population based study.Atherosclerosis, 106 1
Cystathionine β synthase (CBS) is a key enzyme in homocysteine metabolism. We have examined four apparently non‐functional polymorphisms in the CBS gene and have determined their frequency, degree of linkage disequilibrium and association with plasma homocysteine levels. The polymorphisms are a 68 bp insertion in exon 8, C699T in exon 8, C1080T in exon 11 and C1985T in the 3′ untranslated region. 785 individuals participating in the European Atherosclerosis Research Study II (EARSII), from 11 countries across Europe were genotyped for these polymorphisms. The 68bp insertion had the highest frequency in the UK and in the Middle region, with a lower frequency in the Baltic and the South (p=0.01), and the exon 11 polymorphism had the highest frequencies of the rare allele in the Baltic (p<0.05). There was a high degree of linkage disequilibrium between the polymorphisms (p<0.001 overall), except between C699T and the C1985T, with three common haplotypes accounting for nearly 80% of chromosomes. Examination of the association between these polymorphisms and plasma homocysteine levels revealed that the carriers of the rare alleles of the C699T, C1080T and C1985T polymorphisms had lower plasma homocysteine concentrations than those homozygous for the common alleles, although these differences were not statistically significant. The thermolabile valine variant caused by a substitution of a C for a T at nucleotide 677 in the methylenetetrahydrofolate reductase (MTHFR) has previously been shown to have profound effects on plasma levels of homocysteine in this sample, but the homocysteine‐raising effect associated with this thermolabile variant was not seen in carriers of the 68 bp insertion, with this interaction being statistically significant (p<0.001). These data demonstrate that variation in the CBS gene as detected with these four polymorphisms, had no statistically significant effect on plasma homocysteine levels in these healthy young men. However, the presence of the 68 bp insertion, which is found in approximately 7.5% of individuals in the populations of Europe sampled, abolishes the raising effect of thermolabile MTHFR Val/Val genotype, and may be of importance in the situation of high homocysteine.
Annals of Human Genetics – Wiley
Published: Jan 1, 1998
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.