IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v15y2024i1d10.1038_s41467-023-44683-0.html
   My bibliography  Save this article

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
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-023-44683-0
    File Function: Abstract
    Download Restriction: no

    File URL: https://libkey.io/10.1038/s41467-023-44683-0?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    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.
    Full references (including those not matched with items on IDEAS)

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Adrienne Tin & Pascal Schlosser & Pamela R. Matias-Garcia & Chris H. L. Thio & Roby Joehanes & Hongbo Liu & Zhi Yu & Antoine Weihs & Anselm Hoppmann & Franziska Grundner-Culemann & Josine L. Min & Vic, 2021. "Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus," Nature Communications, Nature, vol. 12(1), pages 1-18, December.
    2. Matthias Wielscher & Pooja R. Mandaviya & Brigitte Kuehnel & Roby Joehanes & Rima Mustafa & Oliver Robinson & Yan Zhang & Barbara Bodinier & Esther Walton & Pashupati P. Mishra & Pascal Schlosser & Ro, 2022. "DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    3. Kelly Yichen Li & Claudia Ha Ting Tam & Hongbo Liu & Samantha Day & Cadmon King Poo Lim & Wing Yee So & Chuiguo Huang & Guozhi Jiang & Mai Shi & Heung Man Lee & Hui-yao Lan & Cheuk-Chun Szeto & Robert, 2023. "DNA methylation markers for kidney function and progression of diabetic kidney disease," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    4. Wei Zhao & Farah Ammous & Scott Ratliff & Jiaxuan Liu & Miao Yu & Thomas H. Mosley & Sharon L. R. Kardia & Jennifer A. Smith, 2019. "Education and Lifestyle Factors Are Associated with DNA Methylation Clocks in Older African Americans," IJERPH, MDPI, vol. 16(17), pages 1-18, August.
    5. Qin Zeng & Jianfeng Song & Xiaoxiao Sun & Dandan Wang & Xiyan Liao & Yujin Ding & Wanyu Hu & Yayi Jiao & Wuqian Mai & Wufuer Aini & Fanqi Wang & Hui Zhou & Limin Xie & Ying Mei & Yuan Tang & Zhiguo Xi, 2024. "A negative feedback loop between TET2 and leptin in adipocyte regulates body weight," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
    6. Pascal Schlosser & Adrienne Tin & Pamela R. Matias-Garcia & Chris H. L. Thio & Roby Joehanes & Hongbo Liu & Antoine Weihs & Zhi Yu & Anselm Hoppmann & Franziska Grundner-Culemann & Josine L. Min & Ade, 2021. "Meta-analyses identify DNA methylation associated with kidney function and damage," Nature Communications, Nature, vol. 12(1), pages 1-16, December.
    7. Yu Yan & Hongbo Liu & Amin Abedini & Xin Sheng & Matthew Palmer & Hongzhe Li & Katalin Susztak, 2024. "Unraveling the epigenetic code: human kidney DNA methylation and chromatin dynamics in renal disease development," Nature Communications, Nature, vol. 15(1), pages 1-17, December.
    8. Pui Pik Law & Liudmila A. Mikheeva & Francisco Rodriguez-Algarra & Fredrika Asenius & Maria Gregori & Robert A. E. Seaborne & Selin Yildizoglu & James R. C. Miller & Hemanth Tummala & Robin Mesnage & , 2024. "Ribosomal DNA copy number is associated with body mass in humans and other mammals," Nature Communications, Nature, vol. 15(1), pages 1-11, December.
    9. Hannah Lui Park, 2020. "Epigenetic Biomarkers for Environmental Exposures and Personalized Breast Cancer Prevention," IJERPH, MDPI, vol. 17(4), pages 1-18, February.
    10. Thomas Battram & Tom R. Gaunt & Caroline L. Relton & Nicholas J. Timpson & Gibran Hemani, 2022. "A comparison of the genes and genesets identified by GWAS and EWAS of fifteen complex traits," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
    11. Laura J. Smyth & Emma H. Dahlström & Anna Syreeni & Katie Kerr & Jill Kilner & Ross Doyle & Eoin Brennan & Viji Nair & Damian Fermin & Robert G. Nelson & Helen C. Looker & Christopher Wooster & Darrel, 2022. "Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
    12. Ayoung Jeong & Medea Imboden & Akram Ghantous & Alexei Novoloaca & Anne-Elie Carsin & Manolis Kogevinas & Christian Schindler & Gianfranco Lovison & Zdenko Herceg & Cyrille Cuenin & Roel Vermeulen & D, 2019. "DNA Methylation in Inflammatory Pathways Modifies the Association between BMI and Adult-Onset Non-Atopic Asthma," IJERPH, MDPI, vol. 16(4), pages 1-15, February.
    13. Paola Monti & Simona Iodice & Letizia Tarantini & Francesca Sacchi & Luca Ferrari & Massimiliano Ruscica & Massimiliano Buoli & Luisella Vigna & Angela Cecilia Pesatori & Valentina Bollati, 2021. "Effects of PM Exposure on the Methylation of Clock Genes in A Population of Subjects with Overweight or Obesity," IJERPH, MDPI, vol. 18(3), pages 1-14, January.
    14. Liam McAllan & Damir Baranasic & Sergio Villicaña & Scarlett Brown & Weihua Zhang & Benjamin Lehne & Marco Adamo & Andrew Jenkinson & Mohamed Elkalaawy & Borzoueh Mohammadi & Majid Hashemi & Nadia Fer, 2023. "Integrative genomic analyses in adipocytes implicate DNA methylation in human obesity and diabetes," Nature Communications, Nature, vol. 14(1), pages 1-20, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-023-44683-0. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.