Association between cystathionine-beta-synthase gene mutation and ischemic cerebrovascular disease in youths

Guangxian NAN; Liping WANG; Mingji CUI

ABSTRACT

BACKGROUND:

Homocysteine is associated with the attack of cerebral infarction, and cystathionine-beta-synthase (CBS) is a key enzyme of the metabolism of homocysteine, but it is still not clear whether its gene mutation is the potential candidate genic factor of cerebral infarction.

OBJECTIVE:

To observe the correlation of CBS base mutation at T833C and G919 sites with the attack of ischemic stroke in youths from the angle of genic mutation.

DESIGN:

A patient-control analysis.

SETTING:

Department of Neurology, China-Japan Friendship Hospital of Jilin University.

PARTICIPANTS:

Patient group (n=100) Young inpatients with cerebral infarction ≤ 45 years old in the China-Japan Friendship Hospital of Jilin University between April 2003 and December 2004, admitted within 2 days after attack. Control group (n=100) Normal young physical examinees in this hospital at the same period.

METHODS:

The levels of fasting and loaded homocysteine in plasma were detected with high performance liquid chromatography (HPLC), CBS genes at T833C and G919A sites with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification refractory mutation system in all the subjects.

RESULTS:

All of the 200 subjects entered the analysis of results. ① Detection of CBS genes at T833C and G919A sites The distribution of genotype, frequency of homozygote and that of allele had no significant differences between the patient group and control group (P ＞ 0.05). ② Concentration of homocysteine in plasma There were significant differences among the genotypes at G919A and T833C sites (P ＜ 0.001). The results of LSD-t test of the mutation at the two sites showed that there were significant differences between homozygote and heterozygote, homozygote and wild type,as well as C heterozygote and wild type (P ＜ 0.05).

CONCLUSION:

① The CBS gene mutations at both T833C and G919A sites can lead to the obvious increase of the concentration of homocysteine in plasma. ② The CBS gene mutations at T833C and G919A sites had no direct association with the attack of cerebrovascular disease in youths.