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

The Acne Genetic Study Group, 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, Anton Alexandroff, Alex Anstey, Jaskiran Azad, Omar Aziz, Nigel Burrows, Aamir ButtPeter Cartwright, Anna Chapman, Timothy H. Clayton, Sandeep Cliff, Tim Cutler, Brigid Daly, Amrit Darvay, Claudia DeGiovanni, Anthony Downs, Colm Dwyer, John English, Adam Ferguson, Colin Fleming, Elizabeth Fraser-Andrews, Mark Goodfield, Clive E. Grattan, Hartmut Hempel, Sue Hood, Bronwyn Hughes, Evmorfia Ladoyanni, Calum Lyon, Ali Mahmud, Moshin Malik, Eleanor Mallon, Simon Meggitt, Andrew Messenger, Yaaseen Moosa, Stephanie Munn, Anthony Ormerod, Deepak Rallan, Janet Ross, John Alexander McGrath, Jonathan Nicholas William Noel Barker, Catherine H Smith, Timothy D. Spector, Jonathan N. Barker, Michael A. Simpson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

33 Citations (Scopus)


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.

Original languageEnglish
Article number5075
JournalNature Communications
Issue number1
Publication statusPublished - 12 Dec 2018


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