Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris

Alexander A Navarini, Michael A Simpson, Michael Weale, Jo Knight, Isabelle Carlavan, Pascale Reiniche, David A Burden, Alison Layton, Veronique Bataille, Michael Allen, Robert Pleass, Andrew Pink, Daniel Creamer, John English, Stephanie Munn, Shernaz Walton, Carolyn Willis, Sophie Déret, Johannes J Voegel, Tim SpectorCatherine H Smith, Richard C Trembath, Jonathan N Barker, Acne Genetic Study Group, Anthony Ormerod

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54 Citations (Scopus)


Acne vulgaris (acne) is a common inflammatory disorder of the cutaneous pilo-sebaceous unit. Here we perform a genome-wide association analysis in the United Kingdom, comparing severe cases of acne (n=1,893) with controls (n=5,132). In a second stage, we genotype putative-associated loci in a further 2,063 acne cases and 1,970 controls. We identify three genome-wide significant associations: 11q13.1 (rs478304, Pcombined=3.23 × 10(-11), odds ratio (OR) = 1.20), 5q11.2 (rs38055, P(combined) = 4.58 × 10(-9), OR = 1.17) and 1q41 (rs1159268, P(combined) = 4.08 × 10(-8), OR = 1.17). All three loci contain genes linked to the TGFβ cell signalling pathway, namely OVOL1, FST and TGFB2. Transcripts of OVOL1 and TFGB2 have decreased expression in affected compared with normal skin. Collectively, these data support a key role for dysregulation of TGFβ-mediated signalling in susceptibility to acne.

Original languageEnglish
Article number4020
JournalNature Communications
Publication statusPublished - 13 Jun 2014

Bibliographical note

We thank Saxena Alka (London, UK); Ulrike Blume-Peytavi (Berlin, Germany); Leaca Crawford34; Jana Estafan24; Darren Geoghegan1; Dan Glass7; Alison Gosh35; Naomi Hare1; Helen Holmes1; Eleanor Mallon55; Karen Markwell (West Hertfordshire, UK); Philippe Martel4; Carine Marty4; Corinne Ménigot4; Efterpi Papouli (London, UK); Anne Thompson51; Kate Thornberry1; Bianca Tobin46; and the participating patients and supporting staff in all the study centres. This study was supported in part by a research grant from Galderma SA to J.N.B., R.C.T., C.H.S., M.S., M.W., J.K., T.S.; by a British Skin Foundation Grant to C.H.S.; by Stiftung Dr Max Cloëtta; UNISCIENTIA/SNF PASMP3_140074/W.G. Siegenthaler grant to A.A.N.; and by an Medical Research Council/British Association of Dermatologists/British Skin Foundation Clinical Research Training Fellowship to A.P. The research was funded/supported by the National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust and King’s College London. The views expressed are those of the author(s) and not necessarily those of the National Health Service (NHS), the National Institute for Health Research (NIHR) or the Department of Health. We acknowledge the support of the NIHR, through the Dermatology Clinical Research Network, with case ascertainment.


  • biological sciences
  • genetics


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