Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Nature communications, 2014-06, Vol.5 (1), p.4020-4020, Article 4020

Ort / Verlag

London: Nature Publishing Group UK

Erscheinungsjahr

2014

Quelle

MEDLINE

Beschreibungen/Notizen

• 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, P combined =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. Acne vulgaris is a common, inflammatory skin disorder. Here the authors carry out a genome-wide association study and identify three genetic variants that associate with an increased risk of developing acne, which together suggest a mechanistic role for the TGFβ cell signalling pathway in acne development and progression.