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Family history of venous thromboembolism as a risk factor and genetic research tool.

Zöller, Bengt LU ; Li, Xinjun LU ; Ohlsson, Henrik LU ; Ji, Jianguang LU ; Sundquist, Jan LU and Sundquist, Kristina LU (2015) In Thrombosis and Haemostasis 114(5). p.890-900
Abstract
Familial clustering of venous thromboembolism (VTE) was described as far back as 1905 by Briggs. Although Egeberg discovered inherited deficiency of antithrombin in 1965, it was not until Dahlbäck discovered resistance to activated protein C in 1993 that it became clear that genetic factors are common risk factors of VTE. Several genes have been linked to familial aggregation of VTE and genome-wide association studies have found several novel gene loci. Still, it has been estimated that much of the heritability for VTE remains to be discovered. Family history (FH) of VTE is therefore still important to determine whether a patient has an increased genetic risk of VTE. FH has the potential to represent the sum of effects and interactions... (More)
Familial clustering of venous thromboembolism (VTE) was described as far back as 1905 by Briggs. Although Egeberg discovered inherited deficiency of antithrombin in 1965, it was not until Dahlbäck discovered resistance to activated protein C in 1993 that it became clear that genetic factors are common risk factors of VTE. Several genes have been linked to familial aggregation of VTE and genome-wide association studies have found several novel gene loci. Still, it has been estimated that much of the heritability for VTE remains to be discovered. Family history (FH) of VTE is therefore still important to determine whether a patient has an increased genetic risk of VTE. FH has the potential to represent the sum of effects and interactions between environmental and genetic factors. In this article the design, methodology, results, clinical and genetic implications of FH studies of VTE are reviewed. FH in first-degree relatives (siblings and/or parents) is associated with a 2-3 times increased familial relative risk (FRR). However, the FRR is dependent on age, number of affected relatives, and presentation of VTE (provoked/unprovoked). Especially high familial risks are observed in individuals with two or more affected siblings (FFR> 50). However, the familial risk for recurrent VTE is much lower or non-significant. Moreover, FH of VTE appears mainly to be important for venous diseases (i. e. VTE and varicose veins). The familial associations with other diseases are weaker. In conclusion, FH of VTE is an important research tool and a clinically potential useful risk factor for VTE. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Thrombosis and Haemostasis
volume
114
issue
5
pages
890 - 900
publisher
F K Schattauer Verlag Gmbh
external identifiers
  • pmid:26305449
  • wos:000364510100007
  • scopus:84946559024
ISSN
0340-6245
DOI
10.1160/TH15-04-0306
language
English
LU publication?
yes
id
4e6ac2f9-5ef6-4e93-8c73-0e83d6c9cdc6 (old id 7834729)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26305449?dopt=Abstract
date added to LUP
2015-09-07 19:24:08
date last changed
2017-09-10 04:01:49
@article{4e6ac2f9-5ef6-4e93-8c73-0e83d6c9cdc6,
  abstract     = {Familial clustering of venous thromboembolism (VTE) was described as far back as 1905 by Briggs. Although Egeberg discovered inherited deficiency of antithrombin in 1965, it was not until Dahlbäck discovered resistance to activated protein C in 1993 that it became clear that genetic factors are common risk factors of VTE. Several genes have been linked to familial aggregation of VTE and genome-wide association studies have found several novel gene loci. Still, it has been estimated that much of the heritability for VTE remains to be discovered. Family history (FH) of VTE is therefore still important to determine whether a patient has an increased genetic risk of VTE. FH has the potential to represent the sum of effects and interactions between environmental and genetic factors. In this article the design, methodology, results, clinical and genetic implications of FH studies of VTE are reviewed. FH in first-degree relatives (siblings and/or parents) is associated with a 2-3 times increased familial relative risk (FRR). However, the FRR is dependent on age, number of affected relatives, and presentation of VTE (provoked/unprovoked). Especially high familial risks are observed in individuals with two or more affected siblings (FFR> 50). However, the familial risk for recurrent VTE is much lower or non-significant. Moreover, FH of VTE appears mainly to be important for venous diseases (i. e. VTE and varicose veins). The familial associations with other diseases are weaker. In conclusion, FH of VTE is an important research tool and a clinically potential useful risk factor for VTE.},
  author       = {Zöller, Bengt and Li, Xinjun and Ohlsson, Henrik and Ji, Jianguang and Sundquist, Jan and Sundquist, Kristina},
  issn         = {0340-6245},
  language     = {eng},
  number       = {5},
  pages        = {890--900},
  publisher    = {F K Schattauer Verlag Gmbh},
  series       = {Thrombosis and Haemostasis},
  title        = {Family history of venous thromboembolism as a risk factor and genetic research tool.},
  url          = {http://dx.doi.org/10.1160/TH15-04-0306},
  volume       = {114},
  year         = {2015},
}