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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

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, Michael A. Simpson

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. More... »

PAGES

5075

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41467-018-07459-5

    DOI

    http://dx.doi.org/10.1038/s41467-018-07459-5

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1110155332

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30542056


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