Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.

Acne Vulgaris / genetics Genetic Predisposition to Disease / genetics Genome-Wide Association Study Humans Multifactorial Inheritance Phenotype Polymorphism, Single Nucleotide Quantitative Trait Loci Risk

Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
07 02 2022
Historique:
received: 27 05 2021
accepted: 13 01 2022
entrez: 8 2 2022
pubmed: 9 2 2022
medline: 3 3 2022
Statut: epublish

Résumé

Acne vulgaris is a highly heritable skin disorder that primarily impacts facial skin. Severely inflamed lesions may leave permanent scars that have been associated with long-term psychosocial consequences. Here, we perform a GWAS meta-analysis comprising 20,165 individuals with acne from nine independent European ancestry cohorts. We identify 29 novel genome-wide significant loci and replicate 14 of the 17 previously identified risk loci, bringing the total number of reported acne risk loci to 46. Using fine-mapping and eQTL colocalisation approaches, we identify putative causal genes at several acne susceptibility loci that have previously been implicated in Mendelian hair and skin disorders, including pustular psoriasis. We identify shared genetic aetiology between acne, hormone levels, hormone-sensitive cancers and psychiatric traits. Finally, we show that a polygenic risk score calculated from our results explains up to 5.6% of the variance in acne liability in an independent cohort.

Identifiants

DOI: 10.1038/s41467-022-28252-5 PMID: 35132056 PMC: PMC8821634
pubmed: 35132056
doi: 10.1038/s41467-022-28252-5
pii: 10.1038/s41467-022-28252-5
pmc: PMC8821634
doi:

Types de publication

Journal Article Meta-Analysis Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

702

Subventions

Organisme : Medical Research Council
ID : MC_UU_00011/5
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S003126/1
Pays : United Kingdom

Informations de copyright

© 2022. The Author(s).

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Auteurs

Brittany L Mitchell (BL)

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
School of Biomedical Sciences, Faculty of Health, Queensland University of Technology (QUT), Brisbane, Australia.
ORCID: 0000-0002-9050-1516

Jake R Saklatvala (JR)

Department of Medical and Molecular Genetics, King's College London, London, UK.
ORCID: 0000-0003-0836-4928

Nick Dand (N)

Department of Medical and Molecular Genetics, King's College London, London, UK.
Health Data Research UK, London, UK.
ORCID: 0000-0002-1805-6278

Fiona A Hagenbeek (FA)

Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Amsterdam Public Health research institute, Amsterdam, The Netherlands.
ORCID: 0000-0002-8773-0430

Xin Li (X)

Department of Epidemiology, Indiana University Richard M. Fairbanks School of Public Health, Indianapolis, US.
Indiana University Melvin and Bren Simon Comprehensive Cancer Center, Indianapolis, US.
ORCID: 0000-0002-0135-8800

Josine L Min (JL)

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
ORCID: 0000-0003-4456-9824

Laurent Thomas (L)

Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway.
K. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health, Norwegian University of Science and Technology, Trondheim, Norway.
BioCore - Bioinformatics Core Facility, Norwegian University of Science and Technology, Trondheim, Norway.
ORCID: 0000-0003-0548-2486

Meike Bartels (M)

Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Amsterdam Public Health research institute, Amsterdam, The Netherlands.
ORCID: 0000-0002-9667-7555

Jouke Jan Hottenga (J)

Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Amsterdam Public Health research institute, Amsterdam, The Netherlands.
ORCID: 0000-0002-5668-2368

Michelle K Lupton (MK)

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.

Dorret I Boomsma (DI)

Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Amsterdam Public Health research institute, Amsterdam, The Netherlands.

Xianjun Dong (X)

Genomics and Bioinformatics Hub, Brigham and Women's Hospital, Boston, MA, USA.
Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.
ORCID: 0000-0002-8052-9320

Kristian Hveem (K)

K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
HUNT Research Centre, Department of Public Health and Nursing, Norwegian University of Science and Technology, Levanger, Norway.
Levanger Hospital, Nord-Trøndelag Hospital Trust, Levanger, Norway.

Mari Løset (M)

K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Department of Dermatology, Clinic of Orthopaedy, Rheumatology and Dermatology, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.
ORCID: 0000-0003-3736-6551

Nicholas G Martin (NG)

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
ORCID: 0000-0003-4069-8020

Jonathan N Barker (JN)

St John's Institute of Dermatology, Faculty of Life Sciences & Medicine, King's College London, London, UK.

Jiali Han (J)

Department of Epidemiology, Indiana University Richard M. Fairbanks School of Public Health, Indianapolis, US.
Indiana University Melvin and Bren Simon Comprehensive Cancer Center, Indianapolis, US.

Catherine H Smith (CH)

St John's Institute of Dermatology, Faculty of Life Sciences & Medicine, King's College London, London, UK.

Miguel E Rentería (ME)

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia. miguel.renteria@qimrberghofer.edu.au.
School of Biomedical Sciences, Faculty of Health, Queensland University of Technology (QUT), Brisbane, Australia. miguel.renteria@qimrberghofer.edu.au.
ORCID: 0000-0003-4626-7248

Michael A Simpson (MA)

Department of Medical and Molecular Genetics, King's College London, London, UK. michael.simpson@kcl.ac.uk.
ORCID: 0000-0002-8539-8753

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Classifications MeSH

questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies des glandes sébacées › Acné juvénile › Genome-wide association meta-analysis...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Genome-wide association meta-analysis...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Genome-wide association meta-analysis...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genome-wide association meta-analysis...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Hérédité multifactorielle › Genome-wide association meta-analysis...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Genome-wide association meta-analysis...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Genome-wide association meta-analysis...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Locus génétiques › Locus de caractère quantitatif › Genome-wide association meta-analysis...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Genome-wide association meta-analysis...