Germline and somatic variants in <i>DNMT3A</i> and other clonal haematopoiesis of indeterminate potential genes contribute to pulmonary arterial hypertension
Germline DNMT3A variants and somatic variants of DNMT3A and CHIP genes increase the risk of PAH, including APAH-CTD, promote inflammation, and constitute potential biomarkers and therapeutic targets.
Authors
- Rachel L. Damico (ORCID: https://orcid.org/0000-0002-2584-1557)
- Alexander G. Bick (ORCID: https://orcid.org/0000-0001-5824-9595)
- Caitlyn Vlasschaert (ORCID: https://orcid.org/0009-0003-8466-7602)
- Ashley Martin (ORCID: https://orcid.org/0009-0005-8170-1638)
- Charles C.T. Hindmarch (ORCID: https://orcid.org/0000-0002-6036-1292)
- Paul M. Hassoun (ORCID: https://orcid.org/0000-0003-0601-4975)
- Wendy K. Chung (ORCID: https://orcid.org/0000-0003-3438-5685)
- Stephen L. Archer (ORCID: https://orcid.org/0000-0003-1106-3202)
- Patrícia Lima (ORCID: https://orcid.org/0000-0002-6456-2470)
- Kuang‐Hueih Chen
- François Potus (ORCID: https://orcid.org/0000-0003-1745-6445)
- Ruaa Al‐Qazazi (ORCID: https://orcid.org/0000-0003-0983-9745)
- William C. Nichols (ORCID: https://orcid.org/0000-0003-1242-9237)
- Curtis Noordhof
- Na Zhu (ORCID: https://orcid.org/0000-0001-6460-3087)
- Yufeng Shen (ORCID: https://orcid.org/0000-0002-1299-5979)
- Isaac Emon (ORCID: https://orcid.org/0009-0002-6375-1074)
- Michael J. Rauh (ORCID: https://orcid.org/0000-0002-8346-5537)
- Danchen Wu (ORCID: https://orcid.org/0000-0003-3901-5907)
- Amy J. M. McNaughton (ORCID: https://orcid.org/0000-0002-9447-9010)
- Marco M. Buttigieg (ORCID: https://orcid.org/0000-0002-9584-9861)
- Asish Dasgupta (ORCID: https://orcid.org/0000-0002-3670-1197)
- Benjamin P. Ott
- Lindsay Jefferson
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- Boston Children's Hospital (US)
- Harvard University (US)
- Johns Hopkins University (US)
- Queen's University (CA)
- Columbia University Irving Medical Center (US)
- Johns Hopkins Medicine (US)
- Institut universitaire de cardiologie et de pneumologie de Québec (CA)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- European Heart Journal
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1093/eurheartj/ehaf611
- Citations
- 1
- Primary Topic
- Pulmonary Hypertension Research and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.52
Funders
- JPB Foundation
- Ontario Institute for Cancer Research
- Canadian Vascular Network
- Canada Foundation for Innovation
- Norges Idrettshøgskole
- National Institutes of Health
- Canadian Institutes of Health Research