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 β-synthase (CBS), glutamate carboxypeptidase II (GCPII), methionine synthase (MS), methionine synthase reductase (MSR) and methylenetetrahydrofolate 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.844wt–c.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.