Thromb Haemost 2015; 114(05): 910-919
DOI: 10.1160/TH15-05-0410
Theme Issue Article
Schattauer GmbH

Genetics of Venous Thrombosis: update in 2015

Pierre-Emmanuel Morange
1   Laboratory of Haematology, La Timone Hospital, Marseille, France
2   Institut National pour la Santé et la Recherche Médicale (INSERM), Unité Mixte de Recherche en Santé (UMR_S) 1062, Nutrition Obesity and Risk of Thrombosis, Marseille, France
3   Aix-Marseille University, UMR_S 1062, Nutrition Obesity and Risk of Thrombosis, Marseille, France
,
Pierre Suchon
1   Laboratory of Haematology, La Timone Hospital, Marseille, France
2   Institut National pour la Santé et la Recherche Médicale (INSERM), Unité Mixte de Recherche en Santé (UMR_S) 1062, Nutrition Obesity and Risk of Thrombosis, Marseille, France
3   Aix-Marseille University, UMR_S 1062, Nutrition Obesity and Risk of Thrombosis, Marseille, France
,
David-Alexandre Trégouët
4   INSERM UMR_S 1166, Paris, France
5   Sorbonne Universités, Université Pierre et Marie Curie (UPMC Univ Paris 06), UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris, France
6   Institute for Cardiometabolism and Nutrition (ICAN), Paris, France
› Author Affiliations
Further Information

Publication History

Received: 15 May 2015

Accepted after minor revision: 14 July 2015

Publication Date:
06 December 2017 (online)

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Summary

Venous thrombosis (VT) is a common multifactorial disease with a genetic component that was first suspected nearly 60 years ago. In this review, we document the genetic determinants of the disease, and update recent findings delivered by the application of high-throughput genotyping and sequencing technologies. To date, 17 genes have been robustly demonstrated to harbour genetic variations associated with VT risk: ABO, F2, F5, F9, F11, FGG, GP6, KNG1, PROC, PROCR, PROS1, SERPINC1, SLC44A2, STXBP5, THBD, TSPAN15 and VWF. The common polymorphisms are estimated to account only for a modest part (~5 %) of the VT heritability. Much remains to be done to fully disentangle the exact genetic (and epigenetic) architecture of the disease. A large suite of powerful tools and research strategies can be deployed on the large collections of patients that have already been assembled (and additional are ongoing).

* Some earlier investigations on genetic variants of candidate genes are not cited due to space contraints.