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Resistance to activated protein C due to a factor V gene mutation : The most common inherited risk factor of thrombosis

Zöller, Bengt LU ; Holm, Johan LU and Dahlbäck, Björn LU (1996) In Trends in Cardiovascular Medicine 6(2). p.45-53
Abstract

The protein C anticoagulant pathway is of major importance in maintaining vascular patency. Resistance to the key enzyme of this system, activated protein C (APC), is a recently discovered congenital defect of the protein C system. This genetic defect is present in 20% to 60% of venous thrombosis patients, making it by far the most common known pathogenetic risk factor of thrombosis. APC resistance is due to a single point mutation in the factor V gene (G to A at nucleotide position 1691) that predicts the replacement of arginine(506) by glutamine. This is associated with the loss of one of three APC cleavage sites in factor Va, one of the substrates for APC, and hypercoagulability. The identification of APC resistance as an additional... (More)

The protein C anticoagulant pathway is of major importance in maintaining vascular patency. Resistance to the key enzyme of this system, activated protein C (APC), is a recently discovered congenital defect of the protein C system. This genetic defect is present in 20% to 60% of venous thrombosis patients, making it by far the most common known pathogenetic risk factor of thrombosis. APC resistance is due to a single point mutation in the factor V gene (G to A at nucleotide position 1691) that predicts the replacement of arginine(506) by glutamine. This is associated with the loss of one of three APC cleavage sites in factor Va, one of the substrates for APC, and hypercoagulability. The identification of APC resistance as an additional genetic risk factor in a large proportion of symptomatic protein C- and protein S-deficient families has provided evidence that thrombosis is a polygenetic disease. Thus, several genetic defects act in concert with environmental factors in the pathogenesis of venous thromboembolism.

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Contribution to journal
publication status
published
subject
keywords
Journal Article
in
Trends in Cardiovascular Medicine
volume
6
issue
2
pages
45 - 53
publisher
Elsevier
external identifiers
  • scopus:4243738904
ISSN
1050-1738
DOI
10.1016/1050-1738(95)00130-1
language
English
LU publication?
yes
id
2c6644f3-24ed-4afd-884b-67197864b51d
date added to LUP
2017-10-19 15:30:31
date last changed
2017-10-23 10:53:34
@article{2c6644f3-24ed-4afd-884b-67197864b51d,
  abstract     = {<p>The protein C anticoagulant pathway is of major importance in maintaining vascular patency. Resistance to the key enzyme of this system, activated protein C (APC), is a recently discovered congenital defect of the protein C system. This genetic defect is present in 20% to 60% of venous thrombosis patients, making it by far the most common known pathogenetic risk factor of thrombosis. APC resistance is due to a single point mutation in the factor V gene (G to A at nucleotide position 1691) that predicts the replacement of arginine(506) by glutamine. This is associated with the loss of one of three APC cleavage sites in factor Va, one of the substrates for APC, and hypercoagulability. The identification of APC resistance as an additional genetic risk factor in a large proportion of symptomatic protein C- and protein S-deficient families has provided evidence that thrombosis is a polygenetic disease. Thus, several genetic defects act in concert with environmental factors in the pathogenesis of venous thromboembolism.</p>},
  author       = {Zöller, Bengt and Holm, Johan and Dahlbäck, Björn},
  issn         = {1050-1738},
  keyword      = {Journal Article},
  language     = {eng},
  number       = {2},
  pages        = {45--53},
  publisher    = {Elsevier},
  series       = {Trends in Cardiovascular Medicine},
  title        = {Resistance to activated protein C due to a factor V gene mutation : The most common inherited risk factor of thrombosis},
  url          = {http://dx.doi.org/10.1016/1050-1738(95)00130-1},
  volume       = {6},
  year         = {1996},
}