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 Blood, 1 October 2009, Vol. 114, No. 14, pp. 3084-3091.
Prepublished online as a Blood First Edition Paper on July 30, 2009; DOI 10.1182/blood-2009-05-219485.

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THROMBOSIS AND HEMOSTASIS

Cell adhesion molecule 1: a novel risk factor for venous thrombosis

Sandra J. Hasstedt1, Irene D. Bezemer2, Peter W. Callas3, Carla Y. Vossen2, Winifred Trotman3, Robert P. Hebbel4, Christine Demers5, Frits R. Rosendaal2,6, and Edwin G. Bovill3

1 Department of Human Genetics, University of Utah, Salt Lake City; 2 Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands; 3 Department of Pathology, University of Vermont College of Medicine, Burlington; 4 Vascular Biology Center and Division of Hematology-Oncology Transplantation, University of Minnesota Medical School, Minneapolis; 5 Department of Hematology, Université Laval, Quebec City, QC; and 6 Department of Thrombosis and Haemostasis, Leiden University Medical Center, Leiden, The Netherlands

Protein C (PC) deficiency increases the risk of venous thrombosis (VT) among members of Kindred Vermont II but fails to fully account for the inheritance pattern. A genome scan of the pedigree supported the presence of a prothrombotic gene on chromosome 11q23 (nominal P < .0001), with weaker support on chromosomes 10p12 (P < .0003) and 18p11.2-q11 (P < .0007). Resequencing of 109 genes in the linkage regions identified 5030 variants in a sample of 20 kindred members. Of 16 single nucleotide polymorphisms in 6 genes tested in the larger family set, only single nucleotide polymorphisms in cell adhesion molecule 1 (CADM1) associated with VT. Among the 8 CADM1 single nucleotide polymorphisms genotyped in the complete sample, rs6589488 was most strongly supported (P < .000007), but the association was limited to the PC-deficient subset of the sample (P < .000001). Haplotype analysis narrowed the region containing the causative variant to the coding region of the CADM1 gene. CADM1 gene expression analyzed in blood outgrowth endothelial cells cultured from family members was decreased compared with control subjects, lending phenotypic support to this conclusion. Finally, we have for the first time demonstrated CADM1 in endothelial cells, where it appears to be selectively involved in endothelial cell migration, suggesting a role in endothelial barrier repair.


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