Failure to validate association of gene polymorphisms in EPCR, PAR-1, FSAP and protein S Tokushima with venous thromboembolism among Californians of European ancestry

Pecheniuk, Natalie, Elias, Darlene J, Xu, Xiao, and Griffin, John H (2008) Failure to validate association of gene polymorphisms in EPCR, PAR-1, FSAP and protein S Tokushima with venous thromboembolism among Californians of European ancestry. Thrombosis and Haemostasis, 99. pp. 453-455.

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Abstract

Thrombophilia often refers to the increased risk of thrombosis due to a genetic cause, and many genetic variations appear to be associated with venous thromboembolism (VTE). In general, genetic linkage studies may or may not reflect a causative factor and may relate to only a small risk. Moreover, linkage studies require independent replication for widespread acceptance. To date, the factor V R506Q (Leiden) (1, 2) and prothrombin 20210A (3) variants are the most widely validated genetic variants linked with VTE. Using the Scripps Venous Thrombosis Registry (4), we sought to replicate several reported genetic variations in genes encoding endothelial protein C receptor (EPCR), protease activated receptor-1 (PAR-1), factor VII activating protease (FSAP) and protein S (5–10).

Item ID: 8308
Item Type: Article (Refereed Research - C1)
Keywords: factor VII-activating protease; MARBURG-I polymorphism; endothelial protein C receptor gene; risk-factor; thrombosis; mutation;
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ISSN: 0340-6245
Date Deposited: 18 Feb 2010 02:50
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1102 Cardiovascular Medicine and Haematology > 110299 Cardiovascular Medicine and Haematology not elsewhere classified @ 60%
11 MEDICAL AND HEALTH SCIENCES > 1101 Medical Biochemistry and Metabolomics > 110105 Medical Biochemistry: Nucleic Acids @ 40%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920101 Blood Disorders @ 50%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920103 Cardiovascular System and Diseases @ 50%
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