Literature DB >> 26354877

Genetics of Venous Thrombosis: update in 2015.

Pierre-Emmanuel Morange1, Pierre Suchon, David-Alexandre Trégouët.   

Abstract

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).

Entities:  

Keywords:  Venous thrombosis; gene mutations; single nucleotide polymorphisms

Mesh:

Substances:

Year:  2015        PMID: 26354877     DOI: 10.1160/TH15-05-0410

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN: 0340-6245            Impact factor:   5.249


  30 in total

1.  The genetics of venous thromboembolism: a systematic review of thrombophilia families.

Authors:  Yu Zhang; Zhu Zhang; Shi Shu; Wenquan Niu; Wanmu Xie; Jun Wan; Zhenguo Zhai; Chen Wang
Journal:  J Thromb Thrombolysis       Date:  2021-02       Impact factor: 2.300

2.  Polymorphisms in PARK2 and MRPL37 are associated with higher risk of recurrent venous thromboembolism in a sex-specific manner.

Authors:  Kristina Sundquist; Abrar Ahmad; Peter J Svensson; Bengt Zöller; Jan Sundquist; Ashfaque A Memon
Journal:  J Thromb Thrombolysis       Date:  2018-08       Impact factor: 2.300

3.  Cardiovascular fitness in young males and risk of unprovoked venous thromboembolism in adulthood.

Authors:  Bengt Zöller; Henrik Ohlsson; Jan Sundquist; Kristina Sundquist
Journal:  Ann Med       Date:  2016-11-29       Impact factor: 4.709

4.  Plasma Concentrations of High Molecular Weight Kininogen and Prekallikrein and Venous Thromboembolism Incidence in the General Population.

Authors:  Aaron R Folsom; Weihong Tang; Saonli Basu; Jeffrey R Misialek; David Couper; Susan R Heckbert; Mary Cushman
Journal:  Thromb Haemost       Date:  2019-02-19       Impact factor: 5.249

5.  Evaluation of potential cardiovascular risk protein biomarkers in high severity restless legs syndrome.

Authors:  Elisa Bellei; Stefania Bergamini; Emanuela Monari; Aldo Tomasi; Mesrure Koseoglu; Selma Topaloglu Tuac; Serkan Ozben
Journal:  J Neural Transm (Vienna)       Date:  2019-07-23       Impact factor: 3.575

6.  Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.

Authors:  Dong Wang; Min Tian; Guanglin Cui; Dao Wen Wang
Journal:  Front Med       Date:  2017-08-31       Impact factor: 4.592

Review 7.  Regulation of VWF expression, and secretion in health and disease.

Authors:  Yaozu Xiang; John Hwa
Journal:  Curr Opin Hematol       Date:  2016-05       Impact factor: 3.284

8.  Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next-generation sequencing.

Authors:  Wei-An Chang; Chau-Chyun Sheu; Kuan-Ting Liu; Jheng-Heng Shen; Meng-Chi Yen; Po-Lin Kuo
Journal:  Exp Ther Med       Date:  2018-09-04       Impact factor: 2.447

Review 9.  Personalized medicine in thrombosis: back to the future.

Authors:  Srikanth Nagalla; Paul F Bray
Journal:  Blood       Date:  2016-02-04       Impact factor: 22.113

10.  Novel exomic rare variants associated with venous thrombosis.

Authors:  Hiroshi Deguchi; Meenal Shukla; Mohammed Hayat; Ali Torkamani; Darlene J Elias; John H Griffin
Journal:  Br J Haematol       Date:  2020-03-30       Impact factor: 6.998

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