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Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris

Author

Listed:
  • Alexander A. Navarini

    (King's College London)

  • Michael A. Simpson

    (King's College London)

  • Michael Weale

    (King's College London)

  • Jo Knight

    (Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health)

  • Isabelle Carlavan

    (Galderma R&D)

  • Pascale Reiniche

    (Galderma R&D)

  • David A. Burden

    (Western Infirmary)

  • Alison Layton

    (Harrogate and District Foundation Trust)

  • Veronique Bataille

    (Twin Research and Genetic Epidemiology Unit, King's College)

  • Michael Allen

    (King's College London)

  • Robert Pleass

    (St John's Institute of Dermatology, Guy’s and St.Thomas’ NHS Foundation Trust)

  • Andrew Pink

    (King's College London
    St John's Institute of Dermatology, Guy’s and St.Thomas’ NHS Foundation Trust)

  • Daniel Creamer

    (King's College Hospital NHS Foundation Trust)

  • John English

    (Queen's Medical Centre, Nottingham University Hospitals NHS Trust)

  • Stephanie Munn

    (Orpington Hospital, King's College Hospital NHS Foundation Trust)

  • Shernaz Walton

    (Hull and East Yorkshire Hospitals, NHS Trust and Hull York Medical School)

  • Carolyn Willis

    (Amersham Hospital, Buckinghamshire Healthcare NHS Trust)

  • Sophie Déret

    (Galderma R&D)

  • Johannes J. Voegel

    (Galderma R&D)

  • Tim Spector

    (Twin Research and Genetic Epidemiology Unit, King's College)

  • Catherine H. Smith

    (St John's Institute of Dermatology, Guy’s and St.Thomas’ NHS Foundation Trust)

  • Richard C. Trembath

    (Barts and the London School of Medicine and Dentistry, Queen Mary University of London)

  • Jonathan N. Barker

    (King's College London)

Abstract

Acne vulgaris (acne) is a common inflammatory disorder of the cutaneous pilo-sebaceous unit. Here we perform a genome-wide association analysis in the United Kingdom, comparing severe cases of acne (n=1,893) with controls (n=5,132). In a second stage, we genotype putative-associated loci in a further 2,063 acne cases and 1,970 controls. We identify three genome-wide significant associations: 11q13.1 (rs478304, Pcombined=3.23 × 10−11, odds ratio (OR)=1.20), 5q11.2 (rs38055, Pcombined=4.58 × 10−9, OR=1.17) and 1q41 (rs1159268, Pcombined=4.08 × 10−8, OR=1.17). All three loci contain genes linked to the TGFβ cell signalling pathway, namely OVOL1, FST and TGFB2. Transcripts of OVOL1 and TFGB2 have decreased expression in affected compared with normal skin. Collectively, these data support a key role for dysregulation of TGFβ-mediated signalling in susceptibility to acne.

Suggested Citation

  • Alexander A. Navarini & Michael A. Simpson & Michael Weale & Jo Knight & Isabelle Carlavan & Pascale Reiniche & David A. Burden & Alison Layton & Veronique Bataille & Michael Allen & Robert Pleass & A, 2014. "Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris," Nature Communications, Nature, vol. 5(1), pages 1-6, September.
    • Handle: RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms5020
    DOI: 10.1038/ncomms5020
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    Cited by:

    1. Brittany L. Mitchell & Jake R. Saklatvala & Nick Dand & Fiona A. Hagenbeek & Xin Li & Josine L. Min & Laurent Thomas & Meike Bartels & Jouke Hottenga & Michelle K. Lupton & Dorret I. Boomsma & Xianjun, 2022. "Genome-wide association meta-analysis identifies 29 new acne susceptibility loci," Nature Communications, Nature, vol. 13(1), pages 1-9, December.

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