Genetic association study of fatal pulmonary embolism

Pulmonary embolism (PE) is a complex multi-factorial disease and represents one manifestation of venous thromboembolism (VTE). Most commonly PE constitutes a complication of VTE’s other clinical presentation deep vein thrombosis (DVT). The majority of studies concerning risk factors do not distingui...

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Bibliographic Details
Published in:International journal of legal medicine 2021-01, Vol.135 (1), p.143-151
Main Authors: Meißner, Lisa, Schürmann, Peter, Dörk, Thilo, Hagemeier, Lars, Klintschar, Michael
Format: Article
Language:English
Subjects:
Embolisms
Fibrinogen
Forensic Medicine
Medical Law
Medicine
Medicine & Public Health
Original
Original Article
Pulmonary embolisms
Risk analysis
Subgroups
Thromboembolism
Thrombosis
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Summary:Pulmonary embolism (PE) is a complex multi-factorial disease and represents one manifestation of venous thromboembolism (VTE). Most commonly PE constitutes a complication of VTE’s other clinical presentation deep vein thrombosis (DVT). The majority of studies concerning risk factors do not distinguish between PE and DVT. The risk factors are often estimated to be alike, but the prevalence and the risk associated with the major genetic factor Factor V Leiden differ between the two disease states. We have investigated the association of 22 SNPs with PE in 185 PE case and 375 healthy control subjects. At p  = 0.05, eight SNPs presented with nominally significant evidence of association (EOA), although no significantly different genotype distributions remained between cases and controls after Bonferroni correction. Three of these variants (rs1800790, rs3813948, rs6025) showed EOA in the main analysis, and five variants (rs169713, rs1801131, rs4524, rs5985 and rs8176592) demonstrated EOAs in subgroups. Genomic variation modulating Factor V, Factor XIII, Beta fibrinogen (FGB), TFPI or HIVEP1 should be worth to be followed in subsequent studies. The findings of this study support the view that PE represents a complex disease with many factors contributing relatively small effects. Larger sample sizes will be required to reliably detect these small effects.
ISSN:0937-9827
1437-1596
DOI:10.1007/s00414-020-02441-7