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

Author

Listed:
  • Anna Ulrich

    (University of Surrey)

  • Yukyee Wu

    (Imperial College London)

  • Harmen Draisma

    (University of Surrey
    Imperial College London)

  • 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
    Imperial College London
    University of Surrey)

  • Marjo-Riitta Jarvelin

    (Imperial College London
    University of Oulu
    Oulu University Hospital
    Brunel University London)

  • Juha Auvinen

    (University of Oulu)

  • Karl-Heinz Herzig

    (Oulu University and Oulu University Hospital
    Poznan University of Medical Sciences)

  • 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
    National PH Service, Royal Brompton Hospital)

  • David G. Kiely

    (University of Sheffield
    Royal Hallamshire Hospital
    NIHR Biomedical Research Centre Sheffield)

  • Robin Condliffe

    (University of Sheffield
    Royal Hallamshire Hospital)

  • Allan Lawrie

    (Imperial College London
    University of Sheffield)

  • Stefan Gräf

    (University of Cambridge
    NIHR BioResource for Translational Research, Cambridge Biomedical Campus)

  • Nicholas W. Morrell

    (University of Cambridge)

  • Martin R. Wilkins

    (Imperial College London)

  • Inga Prokopenko

    (University of Surrey)

  • Christopher J. Rhodes

    (Imperial College London)

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

Suggested Citation

  • 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 , 2024. "Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-023-44683-0
    DOI: 10.1038/s41467-023-44683-0
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    References listed on IDEAS

    as
    1. Audrey Y. Chu & Adrienne Tin & Pascal Schlosser & Yi-An Ko & Chengxiang Qiu & Chen Yao & Roby Joehanes & Morgan E. Grams & Liming Liang & Caroline A. Gluck & Chunyu Liu & Josef Coresh & Shih-Jen Hwang, 2017. "Epigenome-wide association studies identify DNA methylation associated with kidney function," Nature Communications, Nature, vol. 8(1), pages 1-12, December.
    2. Simone Wahl & Alexander Drong & Benjamin Lehne & Marie Loh & William R. Scott & Sonja Kunze & Pei-Chien Tsai & Janina S. Ried & Weihua Zhang & Youwen Yang & Sili Tan & Giovanni Fiorito & Lude Franke &, 2017. "Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity," Nature, Nature, vol. 541(7635), pages 81-86, January.
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