|
|
| PMID |
|
|
| TITLE |
|
| Genome-wide association meta-analysis identifies 29 new acne susceptibility loci. |
|
| ABSTRACT |
|
|
|
| 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. |
| © 2022. The Author(s). |
|
| DATE PUBLISHED |
|
|
| HISTORY |
|
| PUBSTATUS |
PUBSTATUSDATE |
| received |
2021/05/27 |
| accepted |
2022/01/13 |
| entrez |
2022/02/08 05:49 |
| pubmed |
2022/02/09 06:00 |
| medline |
2022/02/09 06:00 |
|
| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Mitchell BL |
|
Mitchell |
Brittany L |
BL |
|
School of Biomedical Sciences, Faculty of Health, Queensland University of Technology (QUT), Brisbane, Australia. |
| Saklatvala JR |
|
Saklatvala |
Jake R |
JR |
|
Department of Medical and Molecular Genetics, King's College London, London, UK. |
| Dand N |
|
Dand |
Nick |
N |
|
Health Data Research UK, London, UK. |
| Hagenbeek FA |
|
Hagenbeek |
Fiona A |
FA |
|
Amsterdam Public Health research institute, Amsterdam, The Netherlands. |
| Li X |
|
Li |
Xin |
X |
|
Indiana University Melvin and Bren Simon Comprehensive Cancer Center, Indianapolis, US. |
| Min JL |
|
Min |
Josine L |
JL |
|
Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK. |
| Thomas L |
|
Thomas |
Laurent |
L |
|
BioCore - Bioinformatics Core Facility, Norwegian University of Science and Technology, Trondheim, Norway. |
| Bartels M |
|
Bartels |
Meike |
M |
|
Amsterdam Public Health research institute, Amsterdam, The Netherlands. |
| Jan Hottenga J |
|
Jan Hottenga |
Jouke |
J |
|
Amsterdam Public Health research institute, Amsterdam, The Netherlands. |
| Lupton MK |
|
Lupton |
Michelle K |
MK |
|
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Boomsma DI |
|
Boomsma |
Dorret I |
DI |
|
Amsterdam Public Health research institute, Amsterdam, The Netherlands. |
| Dong X |
|
Dong |
Xianjun |
X |
|
Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA. |
| Hveem K |
|
Hveem |
Kristian |
K |
|
Levanger Hospital, Nord-Trøndelag Hospital Trust, Levanger, Norway. |
| Løset M |
|
Løset |
Mari |
M |
|
Department of Dermatology, Clinic of Orthopaedy, Rheumatology and Dermatology, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway. |
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Barker JN |
|
Barker |
Jonathan N |
JN |
|
St John's Institute of Dermatology, Faculty of Life Sciences & Medicine, King's College London, London, UK. |
| Han J |
|
Han |
Jiali |
J |
|
Indiana University Melvin and Bren Simon Comprehensive Cancer Center, Indianapolis, US. |
| Smith CH |
|
Smith |
Catherine H |
CH |
|
St John's Institute of Dermatology, Faculty of Life Sciences & Medicine, King's College London, London, UK. |
| Rentería ME |
|
Rentería |
Miguel E |
ME |
|
School of Biomedical Sciences, Faculty of Health, Queensland University of Technology (QUT), Brisbane, Australia. miguel.renteria@qimrberghofer.edu.au. |
| Simpson MA |
|
Simpson |
Michael A |
MA |
|
Department of Medical and Molecular Genetics, King's College London, London, UK. michael.simpson@kcl.ac.uk. |
|
| INVESTIGATORS |
|
|
| JOURNAL |
|
| VOLUME: 13 |
| ISSUE: 1 |
| TITLE: Nature communications |
| ISOABBREVIATION: Nat Commun |
| YEAR: 2022 |
| MONTH: Feb |
| DAY: 07 |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: 2041-1723 |
| ISSNTYPE: Electronic |
|
| MEDLINE JOURNAL |
|
| MEDLINETA: Nat Commun |
| COUNTRY: England |
| ISSNLINKING: 2041-1723 |
| NLMUNIQUEID: 101528555 |
|
| PUBLICATION TYPE |
|
| PUBLICATIONTYPE TEXT |
| Journal Article |
|
| COMMENTS AND CORRECTIONS |
|
|
| GRANTS |
|
|
| GENERAL NOTE |
|
|
| KEYWORDS |
|
|
| MESH HEADINGS |
|
|
| SUPPLEMENTARY MESH |
|
|
| GENE SYMBOLS |
|
|
| CHEMICALS |
|
|
| OTHER ID's |
|
|
|
