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Published on: April 1, 2019
[Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis]
Yan Shao1, Cheng-Guo Zhang, Jin-Huan Cui
1Department of Neurology, First People's Hospital of Foshan City, Foshan 528000, China. shaoyan2001@21cn.com
Insights
Elevated plasma homocysteine (Hcy) levels are linked to a higher risk of cerebral thrombosis. While common cystathionine beta-synthase (CBS) mutations don't show a direct association, hyperhomocysteinemia itself is a significant risk factor.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Context:
- Cerebral thrombosis is a significant cause of stroke.
- Elevated plasma homocysteine (Hcy) is a potential risk factor.
- Cystathionine beta-synthase (CBS) gene polymorphism may influence Hcy levels.
Purpose:
- To investigate the association between plasma Hcy levels, CBS gene polymorphism, and cerebral thrombosis.
- To determine if specific CBS mutations are linked to an increased risk of cerebral thrombosis.
Summary:
- Patients with cerebral thrombosis exhibited significantly higher fasting plasma Hcy levels compared to controls.
- Plasma Hcy levels demonstrated variation across different CBS genotypes.
- No significant differences in CBS genotype or allele frequencies were observed between patient and control groups.
Impact:
- Hyperhomocysteinemia, rather than common CBS mutations, is directly associated with an increased risk of cerebral thrombosis.
- Findings suggest that monitoring and managing Hcy levels may be crucial for preventing cerebral thrombosis.
Objective:
To study the association of plasma homocysteine (Hcy) and polymorphism and cystathionine beta-synthase (CBS) with cerebral thrombosis.
Methods:
Eighty-seven patients with first-ever acute cerebral thrombosis and 80 control subjects were examined for plasma Hcy levels using high-performance liquid chromatography-fluorescence detection and for CBS polymorphism determined by amplification refractory mutation system.
Results:
The fasting plasma Hcy level was l5.28 micromol/L (95% CI 14.37-16.19 micromol/L) in the patient group, higher than that in the control group (11.32 micromol/L, 95% C1 10.47-12.16 micromol/L, P<0.001). Plasma Hcy levels varied with different genotypes. No difference in genotype or allele frequencies was noted between patient group and control group (P>0.05).
Conclusion:
Common mutations in CBS G919A and CBS T833C lead to hyperhomocysteinemia, which, instead of common mutations in CBS, is more directly associated with increased risk of cerebral thrombosis.
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