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

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, Veronique Bataille, Andrew E. Pink, Isabelle Carlavan, Johannes J. Voegel, Timothy D. Spector, Richard C. Trembath, John A. McGrath, Catherine H. Smith, Jonathan N. Barker () and Michael A. Simpson ()
Additional contact information
Christos Petridis: King’s College London
Alexander A. Navarini: King’s College London
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
Sang Hyuck Lee: 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

Nature Communications, 2018, vol. 9, issue 1, 1-8

Abstract: 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.

Date: 2018
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DOI: 10.1038/s41467-018-07459-5

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