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Updated: Jun 21, 2026
10:24
Quantitation of Endothelial Cell Adhesiveness In Vitro
Published on: June 18, 2015
Cell adhesion molecule 1: a novel risk factor for venous thrombosis
Sandra J Hasstedt1, Irene D Bezemer, Peter W Callas
1Department of Human Genetics, University of Utah, Salt Lake City, USA.
Blood
|August 1, 2009
Summary
Protein C deficiency increases venous thrombosis risk. A novel gene, cell adhesion molecule 1 (CADM1), on chromosome 11q23 is linked to this risk, particularly in deficient individuals.
Area of Science:
- Genetics
- Molecular Biology
- Vascular Biology
Background:
- Protein C deficiency is a known risk factor for venous thrombosis (VT).
- However, it does not fully explain the inheritance patterns observed in some families.
- A genetic component beyond Protein C deficiency is suspected in VT predisposition.
Purpose of the Study:
- To identify genetic factors contributing to venous thrombosis in a family with Protein C deficiency.
- To investigate the role of cell adhesion molecule 1 (CADM1) in VT pathogenesis.
Main Methods:
- Genome-wide scan of a pedigree to identify linkage regions.
- Resequencing of candidate genes within linkage regions.
- Genotyping of single nucleotide polymorphisms (SNPs) and haplotype analysis.
- Analysis of CADM1 gene expression in endothelial cells.
Main Results:
- Genome scan identified a significant linkage region on chromosome 11q23.
- Single nucleotide polymorphisms in the cell adhesion molecule 1 (CADM1) gene were associated with VT.
- A specific SNP, rs6589488, showed strong association, particularly in Protein C-deficient individuals.
- CADM1 gene expression was reduced in family members with VT, and CADM1 was localized to endothelial cells involved in migration.
Conclusions:
- The study identifies CADM1 as a novel susceptibility gene for venous thrombosis.
- Reduced CADM1 expression and function may contribute to endothelial barrier dysfunction and VT.
- CADM1 plays a role in endothelial cell migration and repair, suggesting its importance in vascular health.
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