Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension

Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension

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 (E...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Ulrich, A, Wu, Y, Draisma, H, Wharton, J, Swietlik, E.M, Cebola, I, Vasilaki, E, Balkhiyarova, Z, Jarvelin, M.-R, Auvinen, J, Herzig, K.-H, Coghlan, J.G, Lordan, J, Church, C, Howard, L.S, Pepke-Zaba, J, Toshner, M, Wort, S.J, Kiely, D.G, Condliffe, R, Lawrie, A, Gräf, S, Morrell, N.W, Wilkins, M.R, Prokopenko, I, Rhodes, C.J
Format: Artikel
Sprache:eng
Online-Zugang:Volltext bestellen
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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 
DOI:10.1038/s41467-023-44683-0