The correlation between T833C mutation of the cystathionine β-synthase and cerebral infarction / 中国脑血管病杂志

ABSTRACT

Objective: To investigate the correlation between genetic polymorphisms of cystathionine β-synthase and serum homocysteine in patients with cerebral infarction. Methods: CBS T833C polymorphisms were detected by ARMS and serum homocysteine were measured with HPLC in 67 patients with cerebral infarction and 31 controls. Results: In patients group, CBS genetic homozygous and heterozygous mutations were found in 9 cases and 28 cases respectively. However, there were 3 and 5 cases respectively in the control group. There was significant difference in the frequencies of genotypes and alleles between the two groups (P < 0.01). The levels of serum homocysteine were markedly higher in the patients with CBS genetic heterozygous mutation than that of other patients (t = 4.612, P < 0.01). The mean serum homocysteine level was higher in patients with cerebral infarction than that in controls (23 ± 7 versus 13 ± 4 μmol/L, t = 8.826, P < 0.01). Conclusion: Hyperhomocysteinemia is an independent risk factor for cerebrovascular diseases. Point mutation of CBS gene T833C may play important part in the mechanism of hyperhomocysteinemia and cerbral infarction.