| Literature DB >> 24927181 |
Alexander A Navarini1, Michael A Simpson1, Michael Weale1, Jo Knight2, Isabelle Carlavan3, Pascale Reiniche3, David A Burden4, Alison Layton5, Veronique Bataille6, Michael Allen7, Robert Pleass8, Andrew Pink9, Daniel Creamer10, John English11, Stephanie Munn12, Shernaz Walton13, Carolyn Willis12, Sophie Déret3, Johannes J Voegel3, Tim Spector6, Catherine H Smith8, Richard C Trembath13, Jonathan N Barker7.
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, 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.Entities:
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Year: 2014 PMID： 24927181 DOI： 10.1038/ncomms5020
Source DB: PubMed Journal: Nat Commun ISSN： 2041-1723 Impact factor: 14.919