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Nat Commun. 2014 Jun 13;5:4020. doi: 10.1038/ncomms5020.

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

Author information

1
1] Division of Genetics and Molecular Medicine, King's College London, London SE1 9RT, UK [2].
2
Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada.
3
Scientific Division, Galderma R&D, 06410 Sophia-Antipolis, France.
4
Department of Dermatology, Western Infirmary, Glasgow G11 6NT, UK.
5
Department of Dermatology, Harrogate and District Foundation Trust, Harrogate HG2 7SX, UK.
6
Twin Research and Genetic Epidemiology Unit, Division of Genetics and Molecular Medicine, King's College, London SE1 7EH, UK.
7
Division of Genetics and Molecular Medicine, King's College London, London SE1 9RT, UK.
8
St John's Institute of Dermatology, Guy's and St.Thomas' NHS Foundation Trust, London SE1 9RT, UK.
9
1] Division of Genetics and Molecular Medicine, King's College London, London SE1 9RT, UK [2] St John's Institute of Dermatology, Guy's and St.Thomas' NHS Foundation Trust, London SE1 9RT, UK.
10
Department of Dermatology, King's College Hospital NHS Foundation Trust, London SE5 9RS, UK.
11
Department of Dermatology, Queen's Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham NG7 2UJ, UK.
12
Department of Dermatology, Orpington Hospital, King's College Hospital NHS Foundation Trust, Orpington BR6 9JU, UK.
13
Hull and East Yorkshire Hospitals, NHS Trust and Hull York Medical School, Hull HU3 2JZ, UK.

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.

PMID:
24927181
DOI:
10.1038/ncomms5020
[Indexed for MEDLINE]

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