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

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Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. / Navarini, Alexander A.; Simpson, Michael A.; Weale, Michael et al.
In: Nature Communications, Vol. 5, 4020, 13.06.2014.

Research output: Contribution to Journal/MagazineJournal articlepeer-review

Harvard

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, Déret, S, Voegel, JJ, Spector, T, Smith, CH, Trembath, RC, Barker, JNWN & Acne Genetic Study Group 2014, 'Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris', Nature Communications, vol. 5, 4020. https://doi.org/10.1038/ncomms5020

APA

Navarini, A. A., Simpson, M. A., Weale, M., Knight, J., Carlavan, I., Reiniche, P., Burden, D. A., Layton, A., Bataille, V., Allen, M., Pleass, R., Pink, A., Creamer, D., English, J., Munn, S., Walton, S., Willis, C., Déret, S., Voegel, J. J., ... Acne Genetic Study Group (2014). Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Nature Communications, 5, Article 4020. https://doi.org/10.1038/ncomms5020

Vancouver

Navarini AA, Simpson MA, Weale M, Knight J, Carlavan I, Reiniche P et al. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. Nature Communications. 2014 Jun 13;5:4020. doi: 10.1038/ncomms5020

Author

Navarini, Alexander A. ; Simpson, Michael A. ; Weale, Michael et al. / Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. In: Nature Communications. 2014 ; Vol. 5.

Bibtex

@article{39f3da09c739461fbaf51c081d2a7a85,
title = "Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris",
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.",
keywords = "Acne Vulgaris, Adult, Case-Control Studies, DNA-Binding Proteins, Female, Follistatin, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Polymorphism, Single Nucleotide, Transcription Factors, Transforming Growth Factor beta2, Young Adult",
author = "Navarini, {Alexander A.} and Simpson, {Michael A.} and Michael Weale and Jo Knight and Isabelle Carlavan and Pascale Reiniche and Burden, {David A.} and Alison Layton and Veronique Bataille and Michael Allen and Robert Pleass and Andrew Pink and Daniel Creamer and John English and Stephanie Munn and Shernaz Walton and Carolyn Willis and Sophie D{\'e}ret and Voegel, {Johannes J.} and Tim Spector and Smith, {Catherine H.} and Trembath, {Richard C.} and Barker, {Jonathan N. W. N.} and {Acne Genetic Study Group}",
year = "2014",
month = jun,
day = "13",
doi = "10.1038/ncomms5020",
language = "English",
volume = "5",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",

}

RIS

TY - JOUR

T1 - Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris

AU - Navarini, Alexander A.

AU - Simpson, Michael A.

AU - Weale, Michael

AU - Knight, Jo

AU - Carlavan, Isabelle

AU - Reiniche, Pascale

AU - Burden, David A.

AU - Layton, Alison

AU - Bataille, Veronique

AU - Allen, Michael

AU - Pleass, Robert

AU - Pink, Andrew

AU - Creamer, Daniel

AU - English, John

AU - Munn, Stephanie

AU - Walton, Shernaz

AU - Willis, Carolyn

AU - Déret, Sophie

AU - Voegel, Johannes J.

AU - Spector, Tim

AU - Smith, Catherine H.

AU - Trembath, Richard C.

AU - Barker, Jonathan N. W. N.

AU - Acne Genetic Study Group

PY - 2014/6/13

Y1 - 2014/6/13

N2 - 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.

AB - 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.

KW - Acne Vulgaris

KW - Adult

KW - Case-Control Studies

KW - DNA-Binding Proteins

KW - Female

KW - Follistatin

KW - Genetic Predisposition to Disease

KW - Genome-Wide Association Study

KW - Genotype

KW - Humans

KW - Male

KW - Polymorphism, Single Nucleotide

KW - Transcription Factors

KW - Transforming Growth Factor beta2

KW - Young Adult

U2 - 10.1038/ncomms5020

DO - 10.1038/ncomms5020

M3 - Journal article

C2 - 24927181

VL - 5

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

M1 - 4020

ER -