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Current knowledge on the genetics of incident venous thrombosis
Author(s) -
Morange P.E.,
Trégouët D.A.
Publication year - 2013
Publication title -
journal of thrombosis and haemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.947
H-Index - 178
eISSN - 1538-7836
pISSN - 1538-7933
DOI - 10.1111/jth.12233
Subject(s) - heritability , sibling , genotyping , genetic variants , genome wide association study , missing heritability problem , coagulation cascade , twin study , medicine , genetics , biology , gene , single nucleotide polymorphism , genotype , psychology , developmental psychology , thrombin , platelet
Summary The genetic burden underlying venous thrombosis ( VT ) is characterized by a sibling relative risk of 2.5 and a strong heritability whose estimates varied from 35% to 60% according to different studies. However, the genetic factors identified so far only explain about 5% of VT heritability and just 16 genes have been robustly associated with the susceptibility to VT , most of them affecting the coagulation cascade. Eight of these have been identified during the last 5 years, thanks to the development of high‐throughput micro‐array genotyping technologies, which have radically changed the research landscape in human genetics. The present work is aimed at providing a historical review of the known genetic factors contributing to VT risk, as well as discussing future research strategies to follow to disentangle the whole spectrum of genetic variants associated with VT .