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Genomic Landscape of Thrombosis Recurrence Risk Across Venous Thromboembolism Subtypes
Gaëlle Munsch1, Florian Thibord2,3, Ohanna C Bezerra4
1Univ. Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR 1219, F-33000 Bordeaux, France.
Medrxiv : the Preprint Server for Health Sciences
|December 16, 2024
Summary
Genetic factors influence venous thromboembolism (VT) recurrence. Genome-wide association studies identified new genetic loci and protein levels linked to VT recurrence, offering potential therapeutic targets for this common condition.
Area of Science:
- Genetics
- Genomics
- Cardiovascular Medicine
Background:
- Venous thromboembolism (VT) is a common and serious condition with a significant recurrence rate.
- Current anticoagulant treatments reduce recurrence but increase bleeding risk.
- Understanding the genetic basis of VT recurrence is crucial for improved management.
Purpose of the Study:
- To investigate the genomic architecture of VT recurrence.
- To identify genetic loci and molecular pathways associated with VT recurrence.
- To explore differences in genetic associations between pulmonary embolism (PE) and deep vein thrombosis (DVT).
Main Methods:
- Genome-wide association studies (GWAS) across eight cohorts totaling 6,571 patients.
- Analysis of 1,816 patients who experienced VT recurrence.
- Protein Quantitative Trait Locus and Mendelian Randomization analyses.
Main Results:
- Identified three novel loci (GPR149/MME, L3MBTL4, THSD7B) associated with VT recurrence.
- Elevated Factor XI and GOLM2 linked to increased recurrence; decreased PCSK9 and pro-IL16 linked to reduced recurrence.
- Discovered 18 loci associated with recurrence, with specific variants like SLC4A1 showing differential effects in PE versus DVT.
Conclusions:
- Specific genetic loci and protein pathways significantly influence VT recurrence risk.
- Findings provide insights into potential therapeutic targets for preventing VT recurrence.
- Genetic predispositions may differ between PE and DVT subtypes, necessitating tailored research.
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