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Gene Variants Associated With Deep Vein Thrombosis

CONTEXT The genetic causes of deep vein thrombosis (DVT) are not fully understood. OBJECTIVE To identify single-nucleotide polymorphisms (SNPs) associated with DVT. DESIGN, SETTING, AND PATIENTS We used 3 case-control studies of first DVT. A total of 19 682 gene-centric SNPs were genotyped in 443 ca...

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Published in:JAMA : the journal of the American Medical Association 2008-03, Vol.299 (11), p.1306-1314
Main Authors: Bezemer, Irene D, Bare, Lance A, Doggen, Carine J. M, Arellano, Andre R, Tong, Carmen, Rowland, Charles M, Catanese, Joseph, Young, Bradford A, Reitsma, Pieter H, Devlin, James J, Rosendaal, Frits R
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Language:English
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Summary:CONTEXT The genetic causes of deep vein thrombosis (DVT) are not fully understood. OBJECTIVE To identify single-nucleotide polymorphisms (SNPs) associated with DVT. DESIGN, SETTING, AND PATIENTS We used 3 case-control studies of first DVT. A total of 19 682 gene-centric SNPs were genotyped in 443 cases and 453 controls from the Leiden Thrombophilia Study (LETS, 1988-1992). Twelve hundred six SNPs associated with DVT were reinvestigated in the Multiple Environmental and Genetic Assessment of Risk Factors for Venous Thrombosis study (MEGA-1, 1999-2004) in a subset of 1398 cases and 1757 controls. Nine SNPs associated with DVT in both LETS and MEGA-1 were investigated a third time in 1314 cases and 2877 controls from MEGA-2, a second subset of MEGA. Additional SNPs close to one SNP in CYP4V2 were genotyped in LETS and MEGA-1. MAIN OUTCOME MEASURE Odds ratios (ORs) for DVT were estimated by logistic regression. False discovery rates served to investigate the effect of multiple hypothesis testing. RESULTS Of 9 SNPs genotyped in MEGA-2, 3 were strongly associated with DVT (P 
ISSN:0098-7484
1538-3598
DOI:10.1001/jama.299.11.1306