Shared and distinct genomics of chronic thromboembolic pulmonary hypertension and pulmonary embolism
Author(s)
Type
Journal Article
Abstract
Rationale: Chronic Thromboembolic Pulmonary Hypertension involves formation and non-resolution of thrombus, dysregulated inflammation, angiogenesis and the development of a small vessel vasculopathy. Objectives: We aimed to establish the genetic basis of chronic thromboembolic pulmonary hypertension to gain insight into its pathophysiological contributors. Methods: We conducted a genome-wide association study on 1907 European cases and 10363 European controls. We co-analysed our results with existing results from genome-wide association studies on deep vein thrombosis, pulmonary embolism and idiopathic pulmonary arterial hypertension. Measurements and Main Results: Our primary association study revealed genetic associations at the ABO, FGG, F11, MYH7B, and HLA-DRA loci. Through our co-analysis we demonstrate further associations with chronic thromboembolic pulmonary hypertension at the F2, TSPAN15, SLC44A2 and F5 loci but find no statistically significant associations shared with idiopathic pulmonary arterial hypertension. Conclusions: Chronic thromboembolic pulmonary hypertension is a partially heritable polygenic disease, with related though distinct genetic associations to pulmonary embolism and to deep vein thrombosis.
Date Issued
2024-06-15
Date Acceptance
2024-03-11
Citation
American Journal of Respiratory and Critical Care Medicine, 2024, 209 (12), pp.1477-1485
ISSN
1073-449X
Publisher
American Thoracic Society
Start Page
1477
End Page
1485
Journal / Book Title
American Journal of Respiratory and Critical Care Medicine
Volume
209
Issue
12
Copyright Statement
© 2024 by the American Thoracic Society. This article is open access and distributed under the terms of the Creative Commons Attribution International License 4.0.
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/38470220
Subjects
Chronic Thromboembolic Pulmonary Hypertension (CTEPH)
Conditional false discovery rate
Genome wide association study
Pulmonary embolism
Pulmonary Hypertension
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2024-03-12