A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study

Objectives: The aim of this study was to evaluate the association of polymorphisms present in genes related to homocysteine (Hcy) metabolism with coronary artery disease (CAD). Design and methods: We examined 8 polymorphisms in the cystathionine beta-synthase (CBS), glutamate carboxypeptidase II (GCPII), methionine synthase (Mn methionine synthase reductase (MSR) and methylenetetrahydrofol ate reductase (MTHFR) genes in 140 CAD patients and 113 controls, by means of Chi-square, logistic regression, ANOVA and the Mann-Whitney U test. Results: The c.66 G allele of MSR conferred an odds-ratio for CAD of 1.76 (95% CI 1.12-2.77), while a CBS haplotype [c.699C-c.844wtc. 1080C] was found over-represented in CAD [OR of 2.16 (1.29-3.63)]. Conclusions: Our results not only highlight the involvement of the MSR and CBS genes in the etiology of cardiovascular disease, but also emphasize the strength of haplotype analyses in association studies. (c) 2007 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.