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Epidemiology of Familial Aggregation of Venous Thromboembolism

Zöller, Bengt LU ; Li, Xinjun LU ; Ohlsson, Henrik LU ; Ji, Jianguang LU ; Memon, Ashfaque A. LU ; Svensson, Peter J. LU ; Palmér, Karolina LU ; Dahlbäck, Björn LU ; Sundquist, Jan LU and Sundquist, Kristina LU (2016) In Seminars in Thrombosis and Hemostasis 42(8). p.821-832
Abstract

Familial aggregation (clustering) of venous thromboembolism (VTE) is the clustering of VTE within a family. Though several genes, such as antithrombin, protein C, protein S, factor V, and prothrombin are associated with the familial clustering of VTE, these loci only partially explain the familial aggregation of VTE. The epidemiology of the familial aggregation of VTE exhibits typical characteristics of complex traits. The family history of VTE in first-degree relatives is associated with a two to three times increased familial relative risk (FRR). The FRR of VTE is higher in younger individuals, increases with a number of affected relatives, decreases as the familial relationship becomes more distant, increases with severity... (More)

Familial aggregation (clustering) of venous thromboembolism (VTE) is the clustering of VTE within a family. Though several genes, such as antithrombin, protein C, protein S, factor V, and prothrombin are associated with the familial clustering of VTE, these loci only partially explain the familial aggregation of VTE. The epidemiology of the familial aggregation of VTE exhibits typical characteristics of complex traits. The family history of VTE in first-degree relatives is associated with a two to three times increased familial relative risk (FRR). The FRR of VTE is higher in younger individuals, increases with a number of affected relatives, decreases as the familial relationship becomes more distant, increases with severity (unprovoked), and exhibits slightly stronger male transmission (Carter effect). High FRR is observed in individuals with two or more affected siblings (FRR > 50). Because familial aggregation represents the sum of shared family environmental and genetic factors, one should not assume that evidence of familial aggregation implies genetic effects. However, studies in twins, extended families, adoptees, and spouses indicate a weak involvement of shared environmental factors to the familial aggregation of VTE. Moreover, familial aggregation of VTE fulfills the Hill's criteria for causation. In conclusion, familial aggregation of VTE signals a clinically relevant inherent predisposition for VTE.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
epidemiology, genetics, thrombophilia, venous thromboembolism, venous thrombosis
in
Seminars in Thrombosis and Hemostasis
volume
42
issue
8
pages
821 - 832
publisher
Georg Thieme Verlag
external identifiers
  • scopus:84992166177
  • wos:000388214100003
ISSN
0094-6176
DOI
10.1055/s-0036-1593543
language
English
LU publication?
yes
id
8bf34716-c532-4183-802d-8fb1607f8a45
date added to LUP
2016-11-04 13:44:08
date last changed
2017-09-18 11:29:23
@article{8bf34716-c532-4183-802d-8fb1607f8a45,
  abstract     = {<p>Familial aggregation (clustering) of venous thromboembolism (VTE) is the clustering of VTE within a family. Though several genes, such as antithrombin, protein C, protein S, factor V, and prothrombin are associated with the familial clustering of VTE, these loci only partially explain the familial aggregation of VTE. The epidemiology of the familial aggregation of VTE exhibits typical characteristics of complex traits. The family history of VTE in first-degree relatives is associated with a two to three times increased familial relative risk (FRR). The FRR of VTE is higher in younger individuals, increases with a number of affected relatives, decreases as the familial relationship becomes more distant, increases with severity (unprovoked), and exhibits slightly stronger male transmission (Carter effect). High FRR is observed in individuals with two or more affected siblings (FRR &gt; 50). Because familial aggregation represents the sum of shared family environmental and genetic factors, one should not assume that evidence of familial aggregation implies genetic effects. However, studies in twins, extended families, adoptees, and spouses indicate a weak involvement of shared environmental factors to the familial aggregation of VTE. Moreover, familial aggregation of VTE fulfills the Hill's criteria for causation. In conclusion, familial aggregation of VTE signals a clinically relevant inherent predisposition for VTE.</p>},
  author       = {Zöller, Bengt and Li, Xinjun and Ohlsson, Henrik and Ji, Jianguang and Memon, Ashfaque A. and Svensson, Peter J. and Palmér, Karolina and Dahlbäck, Björn and Sundquist, Jan and Sundquist, Kristina},
  issn         = {0094-6176},
  keyword      = {epidemiology,genetics,thrombophilia,venous thromboembolism,venous thrombosis},
  language     = {eng},
  number       = {8},
  pages        = {821--832},
  publisher    = {Georg Thieme Verlag},
  series       = {Seminars in Thrombosis and Hemostasis},
  title        = {Epidemiology of Familial Aggregation of Venous Thromboembolism},
  url          = {http://dx.doi.org/10.1055/s-0036-1593543},
  volume       = {42},
  year         = {2016},
}