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

Lookup NU author(s): Dr Simon Meggitt


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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, 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. © 2014 Macmillan Publishers Limited. All rights reserved.

Publication metadata

Author(s): Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P, Burden DA, Layton A, Bataille V, Allen M, Pleass R, Pink A, Creamer D, English J, Munn S, Walton S, Willis C, Akhras V, Alexandroff A, Anstey A, Azad J, Aziz O, Baudry D, Burrows N, Butt A, Cartwright P, Chapman A, Clayton T, Cliff S, Cunliffe W, Cutler T, Daly B, Damian E, Darvay A, DeGiovanni C, Downs A, Duckworth M, Dwyer C, Ferguson A, Fleming C, Fox Z, Frazer-Andrews E, Gonzalez J, Goodfield M, Graham R, Grattan C, Green N, Hazelwood-Smith S, Hempel H, Hood S, Hughes B, Ladoyanni E, Lyon C, Mahmud A, Malik M, Meggitt S, Messenger A, Moosa Y, Ormerod A, Patel V, Rallan D, Robertson S, Ross J, Salvary I, Wachsmuth R, Wahie S, Williamson D, Deret S, Voegel JJ, Spector T, Smith CH, Trembath RC, Barker JN

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2014

Volume: 5

Online publication date: 13/06/2014

Acceptance date: 01/05/2014

ISSN (electronic): 2041-1723

Publisher: Nature Publishing Group


DOI: 10.1038/ncomms5020

PubMed id: 24927181


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