Related Experiment Video
Updated: Apr 28, 2026
Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
Published on: May 10, 2024
Hyperhomocysteinemia and methylenetetrahydrofolate reductase polymorphism in cervical artery dissection: a
1Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Peking University, Beijing, PR China.
Insights
This study found that elevated homocysteine levels (Hyperhomocysteinemia) are linked to cervical artery dissection (CAD). The MTHFR C677T gene variant also increases the risk of CAD.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- Cervical artery dissection (CAD) is a known cause of ischemic stroke.
- Hyperhomocysteinemia (HHcy), characterized by elevated plasma homocysteine, is an independent stroke risk factor.
- The association between HHcy and CAD has not been previously established.
Purpose of the Study:
- To investigate the association between HHcy and CAD.
- To examine the role of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in CAD.
- To analyze the relevance of MTHFR C677T in homocysteine metabolism within CAD patients.
Main Methods:
- A comprehensive meta-analysis was conducted on eligible studies.
- Literature search performed on PubMed and Embase (1990-2013) for studies on homocysteine levels or MTHFR genotype frequencies in CAD patients.
- Random-effect model meta-analysis applied to extracted outcomes; heterogeneity assessed using the I(2) test.
Main Results:
- Eight case-control studies involving 2,146 individuals met the inclusion criteria.
- A significant association was observed between HHcy and CAD (SMD: 0.96; 95% CI: 0.42-1.49; p < 0.01).
- The MTHFR C677T polymorphism significantly increased CAD risk under both recessive (OR = 1.81) and dominant (OR = 1.47) models.
Conclusions:
- The findings indicate a positive correlation between HHcy and CAD.
- A significant association between the MTHFR C677T polymorphism and CAD was demonstrated.
- This research highlights potential links between homocysteine metabolism and cervical artery dissection.
Background:
Cervical artery dissection (CAD) is a recognized cause of ischemic stroke. Hyperhomocysteinemia (HHcy), i.e. an elevated concentration of plasma homocysteine, is identified as an independent risk factor for stroke prevalence. However, an association between HHcy and CAD has so far remained unknown.
Methods:
A meta-analysis was performed to analyze the association between HHcy and CAD as well as the relevance of the C677T polymorphism of methylenetetrahydrofolate reductase (MTHFR), the key enzyme in homocysteine metabolism during CAD. We searched PubMed and Embase for studies reporting homocysteine concentrations or MTHFR genotype frequencies in CAD patients from 1990 to 2013. Outcomes were extracted from studies meeting the inclusion criteria and were subjected to a meta-analysis by the random-effect model. Heterogeneity was assessed by the I(2) test.
Results:
Eight case-control studies with 2,146 individuals fulfilled the required criteria and were included in the meta-analysis. HHcy was found to be significantly associated with CAD (pooled standardized mean difference: 0.96; 95% confidence interval, CI: 0.42-1.49; p < 0.01). We also found a significantly increased risk of CAD in individuals with the MTHFR C677T polymorphism by both the recessive model (TT vs. CT+CC; odds ratio, OR = 1.81; 95% CI: 1.22-2.67; p = 0.003) and the dominant model (TT+CT vs. CC; OR = 1.47; 95% CI: 1.08-1.99; p = 0.014).
Conclusion:
Our data suggest positive correlations between HHcy and CAD and between the C677T polymorphism of MTHFR and CAD.
Related Concept Videos
01:19Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu