Venous thrombophilia research. Present and future

被引:1
|
作者
Vilalta, N. [1 ]
Souto, J. C. [1 ]
机构
[1] Hosp Santa Creu i St Pau, Unitat Hemostasia & Trombosi, Barcelona, Spain
来源
ANGIOLOGIA | 2014年 / 66卷 / 04期
关键词
Thrombophilia; Genetics; Risk factors; Predictive models; intermediate phenotypes;
D O I
10.1016/j.angio.2014.03.001
中图分类号
R6 [外科学];
学科分类号
1002 ; 100210 ;
摘要
Thrombosis is a complex human disease. It is the result of the interaction between the environment and genes. This interaction is manifested by,intermediary phenotypes. These intermediary phenotypes are useful for estimating the risk of developing the disease. The targets of current investigations are attempting to identify new mechanisms that underlie the classic Virchow's triad. Modern methodologies, such as genome wide association studies (GWAS) and high-throughput genotyping technology (massive sequencing techniques) are being used to identify genetic variants. The fields of epigenetics, transcriptomics and metabotomics are being developed to complement these studies. The vast amount of data to explain the environmental and genetic factors that predispose for the disease require informatic techniques, such as mathematical and bio-computer models to estimate the individual risk of thrombosis. The research area with the highest clinical application is the development of predictive models to estimate the individual risk of thrombosis. (C) 2014 SEACV. Published by Elsevier Espana, S.L. All rights reserved.
引用
收藏
页码:190 / 198
页数:9
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