Ethnic diversity in the genetics of venous thromboembolism

Liang Tang; Yu Hu

doi:10.1160/TH15-04-0330

Thrombosis and Haemostasis, Inhaltsverzeichnis

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

¹Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China

²Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan, Hubei, China

,

Yu Hu

¹Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China

²Hubei Clinical and Research Center of Thrombosis and Hemostasis, Wuhan, Hubei, China

› Institutsangaben

Abstract

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.

Keywords

Ethnic - genetics - thrombosis - variant - venous thromboembolism

Volltext

Referenzen

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