Thromb Haemost 2015; 114(05): 901-909
DOI: 10.1160/TH15-04-0330
Theme Issue Article
Schattauer GmbH

Ethnic diversity in the genetics of venous thromboembolism

Liang Tang
1   Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China
2   Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan, Hubei, China
,
Yu Hu
1   Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China
2   Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan, Hubei, China
› Author Affiliations
Further Information

Publication History

Received: 22 April 2015

Accepted after major revision: 22 May 2015

Publication Date:
06 December 2017 (online)

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Summary

Genetic susceptibility is considered as a crucial factor for the development of venous thromboembolism (VTE). Epidemiologic and genetic studies have revealed clear disparities in the incidence of VTE and the distribution of genetic factors for VTE in populations stratified by ethnicity worldwide. While gain-of-function polymorphisms in the procoagulant genes are common inherited factors in European-origin populations, the most prevalent molecular basis for venous thrombosis in Asians is confirmed to be dysfunctional variants in the anticoagulant genes. With the breakthrough of genomic technologies, a set of novel common alleles and rare mutations associated with VTE have also been identified, in different ethnic groups. Several putative pathways contributing to the pathogenesis of thrombophilia in populations of African-ancestry are largely unknown, as current knowledge of hereditary and acquired risk factors do not fully explain the highest risk of VTE in Black groups. In-depth studies across diverse ethnic populations are needed to unravel the whole genetics of VTE, which will help developing individual risk prediction models and strategies to minimise VTE in all populations.