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

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 ()
Additional contact information
Anna Ulrich: University of Surrey
Yukyee Wu: Imperial College London
Harmen Draisma: University of Surrey
John Wharton: Imperial College London
Emilia M. Swietlik: University of Cambridge
Inês Cebola: Imperial College London
Eleni Vasilaki: Imperial College London
Zhanna Balkhiyarova: University of Surrey
Marjo-Riitta Jarvelin: Imperial College London
Juha Auvinen: University of Oulu
Karl-Heinz Herzig: Oulu University and Oulu University Hospital
J. Gerry Coghlan: University College London
James Lordan: University of Newcastle
Colin Church: Golden Jubilee National Hospital and University of Glasgow
Luke S. Howard: Imperial College London
Joanna Pepke-Zaba: Royal Papworth Hospital
Mark Toshner: University of Cambridge
Stephen J. Wort: Imperial College London
David G. Kiely: University of Sheffield
Robin Condliffe: University of Sheffield
Allan Lawrie: Imperial College London
Stefan Gräf: University of Cambridge
Nicholas W. Morrell: University of Cambridge
Martin R. Wilkins: Imperial College London
Inga Prokopenko: University of Surrey
Christopher J. Rhodes: Imperial College London

Nature Communications, 2024, vol. 15, issue 1, 1-13

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

Date: 2024
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DOI: 10.1038/s41467-023-44683-0

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