Association between variations in coagulation system genes and carotid plaque
David Della-Morte1, Ashley Beecham, Chuanhui Dong
1Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL, USA.
Journal of the Neurological Sciences
|September 18, 2012
Summary
Genetic variations in von Willebrand factor (vWF), THBS1, and SERPINE1 genes are linked to subclinical atherosclerosis, specifically carotid plaque development and characteristics.
Area of Science:
- Cardiovascular Genetics
- Atherosclerosis Research
- Molecular Biology
Background:
- Genetic variations in coagulation and fibrinolysis influence atherosclerosis risk.
- Limited data exists on the association between subclinical atherosclerosis and coagulation system genes.
- Subclinical atherosclerosis is a precursor to stroke and cardiovascular disease.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in coagulation system genes and subclinical carotid plaque phenotypes.
- To explore gene-gene interactions and haplotypes within coagulation pathways.
- To validate findings in an independent cohort.
Main Methods:
- Utilized high-resolution B-mode carotid ultrasound to assess carotid plaque in 287 Dominicans.
- Analyzed 101 SNPs across 23 coagulation genes using logistic regression, controlling for cardiovascular risk factors.
- Conducted haplotype and gene-interaction analyses, followed by replication in 301 individuals.
Main Results:
- Identified significant associations between vWF and THBS1 genes and carotid plaque size and surface irregularity (p ≤ 0.01).
- Replication analysis confirmed associations for 5 SNPs in the vWF gene with plaque size (p ≤ 0.05).
- SERPINE1 gene emerged as significant in haplotype and interaction analyses.
Conclusions:
- Genetic variations in vWF, THBS1, and SERPINE1 play a role in the development of atherosclerotic plaque.
- These findings highlight specific coagulation genes as potential targets for understanding atherosclerosis.
- Further research can explore the functional mechanisms linking these genes to plaque formation.
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