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 Spector, Catherine H. Smith (), Richard C. Trembath () and Jonathan N. Barker ()
Additional contact information
Alexander A. Navarini: King's College London
Michael A. Simpson: King's College London
Michael Weale: King's College London
Jo Knight: Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health
Isabelle Carlavan: Galderma R&D
Pascale Reiniche: Galderma R&D
David A. Burden: Western Infirmary
Alison Layton: Harrogate and District Foundation Trust
Veronique Bataille: Twin Research and Genetic Epidemiology Unit, King's College
Michael Allen: King's College London
Robert Pleass: St John's Institute of Dermatology, Guy’s and St.Thomas’ NHS Foundation Trust
Andrew Pink: King's College London
Daniel Creamer: King's College Hospital NHS Foundation Trust
John English: Queen's Medical Centre, Nottingham University Hospitals NHS Trust
Stephanie Munn: Orpington Hospital, King's College Hospital NHS Foundation Trust
Shernaz Walton: Hull and East Yorkshire Hospitals, NHS Trust and Hull York Medical School
Carolyn Willis: Amersham Hospital, Buckinghamshire Healthcare NHS Trust
Sophie Déret: Galderma R&D
Johannes J. Voegel: Galderma R&D
Tim Spector: Twin Research and Genetic Epidemiology Unit, King's College
Catherine H. Smith: St John's Institute of Dermatology, Guy’s and St.Thomas’ NHS Foundation Trust
Richard C. Trembath: Barts and the London School of Medicine and Dentistry, Queen Mary University of London
Jonathan N. Barker: King's College London

Nature Communications, 2014, vol. 5, issue 1, 1-6

Abstract: Abstract 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, Pcombined=4.58 × 10−9, OR=1.17) and 1q41 (rs1159268, Pcombined=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.

Date: 2014
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DOI: 10.1038/ncomms5020

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