| 摘要 |
<p>A novel 844ins68 mutation in the cystathionine β-synthase (CBS) gene as a candidate risk factor for cardiovascular disease (CVD). In addition, we measured homocysteine levels, both basal and post-methionine loading (PM), and levels of plasma folate, vitamins B6 and B12 in patients only. For heterozygous and homozygous carriers combined, the odds ratio (O.R.) for CVD was 1.7 (95 % CI 1.1-2.7). The O.R. for heterozygous carriers was 1.5 (95 % CI 0.9-2.3), whereas for homozygotes it accrued to 14.0 (95 % CI 1.7-115). Both fasting and PM homocysteine and vitamin B6 and folate levels did not differ between carriers and non-carriers of the mutation. These results show that a common insertion in the CBS gene represents a novel risk factor for premature CVD, and exhibits a strong gene dosage effect. In addition elevated fasting or PM homocysteine levels are shown not to be a feature of this CBS insertion.</p> |
