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

Petridis, Christos and Navarini, Alexander A. and Dand, Nick and Saklatvala, Jake and Baudry, David and Duckworth, Michael and Allen, Michael H. and Curtis, Charles J. and Lee, Sang Hyuck and Burden, A. David and Layton, Alison and Bataille, Veronique and Pink, Andrew E. and Carlavan, Isabelle and Voegel, Johannes J. and Spector, Timothy D. and Trembath, Richard C. and McGrath, John A. and Smith, Catherine H. and Barker, Jonathan N. and Simpson, Michael A.. (2018) Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne. Nature Communications, 9 (1). p. 5075.

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Official URL: https://edoc.unibas.ch/72190/

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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.
Faculties and Departments:03 Faculty of Medicine > Bereich Spezialfächer (Klinik) > Dermatologie USB > Dermatologie (Navarini)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Spezialfächer (Klinik) > Dermatologie USB > Dermatologie (Navarini)
UniBasel Contributors:Navarini, Alexander
Item Type:Article, refereed
Article Subtype:Research Article
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:05 Apr 2020 14:10
Deposited On:05 Apr 2020 14:10

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