Genetics of Venous Thrombosis: update in 2015

Pierre-Emmanuel Morange; Pierre Suchon; David-Alexandre Trégouët

doi:10.1160/TH15-05-0410

Thrombosis and Haemostasis, Inhaltsverzeichnis

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

¹Laboratory of Haematology, La Timone Hospital, Marseille, France

²Institut 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

³Aix-Marseille University, UMR_S 1062, Nutrition Obesity and Risk of Thrombosis, Marseille, France

,

Pierre Suchon

¹Laboratory of Haematology, La Timone Hospital, Marseille, France

²Institut 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

³Aix-Marseille University, UMR_S 1062, Nutrition Obesity and Risk of Thrombosis, Marseille, France

,

David-Alexandre Trégouët

⁴INSERM UMR_S 1166, Paris, France

⁵Sorbonne Universités, Université Pierre et Marie Curie (UPMC Univ Paris 06), UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris, France

⁶Institute for Cardiometabolism and Nutrition (ICAN), Paris, France

› Institutsangaben

Abstract

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).

Keywords

Venous thrombosis - single nucleotide polymorphisms - gene mutations

Volltext

Referenzen

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