1. Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension
- Author
-
Anna Ulrich, Yukyee Wu, Harmen Draisma, John Wharton, Emilia M. Swietlik, Inês Cebola, Eleni Vasilaki, Zhanna Balkhiyarova, Marjo-Riitta Jarvelin, Juha Auvinen, Karl-Heinz Herzig, J. Gerry Coghlan, James Lordan, Colin Church, Luke S. Howard, Joanna Pepke-Zaba, Mark Toshner, Stephen J. Wort, David G. Kiely, Robin Condliffe, Allan Lawrie, Stefan Gräf, Nicholas W. Morrell, Martin R. Wilkins, Inga Prokopenko, and Christopher J. Rhodes
- Subjects
Science - Abstract
Abstract Pulmonary arterial hypertension (PAH) is characterised by pulmonary vascular remodelling causing premature death from right heart failure. Established DNA variants influence PAH risk, but susceptibility from epigenetic changes is unknown. We addressed this through epigenome-wide association study (EWAS), testing 865,848 CpG sites for association with PAH in 429 individuals with PAH and 1226 controls. Three loci, at Cathepsin Z (CTSZ, cg04917472), Conserved oligomeric Golgi complex 6 (COG6, cg27396197), and Zinc Finger Protein 678 (ZNF678, cg03144189), reached epigenome-wide significance (p
- Published
- 2024
- Full Text
- View/download PDF