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

Lookup NU author(s): Dr Simon Meggitt



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2018, The Author(s). 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.

Publication metadata

Author(s): Petridis C, Navarini AA, Dand N, Saklatvala J, Baudry D, Duckworth M, Allen MH, Curtis CJ, Lee SH, Burden AD, Layton A, Bataille V, Pink AE, Alexandroff A, Anstey A, Azad J, Aziz O, Burrows N, Butt A, Cartwright P, Chapman A, Clayton TH, Cliff S, Cutler T, Daly B, Darvay A, DeGiovanni C, Downs A, Dwyer C, English J, Ferguson A, Fleming C, Fraser-Andrews E, Goodfield M, Grattan CE, Hempel H, Hood S, Hughes B, Ladoyanni E, Lyon C, Mahmud A, Malik M, Mallon E, Meggitt S, Messenger A, Moosa Y, Munn S, Ormerod A, Rallan D, Ross J, Salvary I, Wachsmuth R, Wahie S, Walton S, Walsh S, Williamson D, Willis C, Carlavan I, Voegel JJ, Spector TD, Trembath RC, McGrath JA, Smith CH, Barker JN, Simpson MA

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2018

Volume: 9

Issue: 1

Print publication date: 01/12/2018

Online publication date: 12/12/2018

Acceptance date: 26/10/2018

Date deposited: 04/01/2019

ISSN (print): 0028-0836

ISSN (electronic): 1476-4687

Publisher: Nature Publishing Group


DOI: 10.1038/s41467-018-07459-5

PubMed id: 30542056


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