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Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

Author

Listed:
  • Christos Petridis

    (King’s College London)

  • Alexander A. Navarini

    (King’s College London
    University Hospital of Zurich and University of Zurich)

  • Nick Dand

    (King’s College London)

  • Jake Saklatvala

    (King’s College London)

  • David Baudry

    (King’s College London)

  • Michael Duckworth

    (King’s College London)

  • Michael H. Allen

    (King’s College London)

  • Charles J. Curtis

    (King’s College London
    King’s College London)

  • Sang Hyuck Lee

    (King’s College London
    King’s College London)

  • A. David Burden

    (University of Glasgow)

  • Alison Layton

    (Harrogate and District Foundation Trust)

  • Veronique Bataille

    (King’s College London)

  • Andrew E. Pink

    (King’s College London)

  • Isabelle Carlavan

    (Galderma R&D)

  • Johannes J. Voegel

    (Galderma R&D)

  • Timothy D. Spector

    (King’s College London)

  • Richard C. Trembath

    (King’s College London)

  • John A. McGrath

    (King’s College London)

  • Catherine H. Smith

    (King’s College London)

  • Jonathan N. Barker

    (King’s College London)

  • Michael A. Simpson

    (King’s College London)

Abstract

Acne vulgaris is a highly heritable common, chronic inflammatory disease of the skin for which five genetic risk loci have so far been identified. Here, we perform a genome-wide association study of 3823 cases and 16,144 controls followed by meta-analysis with summary statistics from a previous study, with a total sample size of 26,722. We identify 20 independent association signals at 15 risk loci, 12 of which have not been previously implicated in the disease. Likely causal variants disrupt the coding region of WNT10A and a P63 transcription factor binding site in SEMA4B. Risk alleles at the 1q25 locus are associated with increased expression of LAMC2, in which biallelic loss-of-function mutations cause the blistering skin disease epidermolysis bullosa. These findings indicate that variation affecting the structure and maintenance of the skin, in particular the pilosebaceous unit, is a critical aspect of the genetic predisposition to severe acne.

Suggested Citation

  • Christos Petridis & Alexander A. Navarini & Nick Dand & Jake Saklatvala & David Baudry & Michael Duckworth & Michael H. Allen & Charles J. Curtis & Sang Hyuck Lee & A. David Burden & Alison Layton & V, 2018. "Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne," Nature Communications, Nature, vol. 9(1), pages 1-8, December.
    • Handle: RePEc:nat:natcom:v:9:y:2018:i:1:d:10.1038_s41467-018-07459-5
    DOI: 10.1038/s41467-018-07459-5
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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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