Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
Open access copy at publisher website
Description
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.
Impact and interest:
Citation counts are sourced monthly from Scopus and Web of Science® citation databases.
These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.
Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.
| ID Code: | 240488 |
|---|---|
| Item Type: | Contribution to Journal (Journal Article) |
| Refereed: | Yes |
| Additional Information: | Acknowledgements: We thank the participants who donated their time, life experiences and DNA to this research, and the clinical and scientific teams that worked with them. We acknowledge support from the National Institute for Health Research (NIHR), through the NIHR Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust and King’s College London. Health Data Research UK (MR/S003126/1). Acknowledgments for each cohort that contributed to this meta-analysis can be found in the supplementary information. |
| Measurements or Duration: | 9 pages |
| DOI: | 10.1038/s41467-022-28252-5 |
| ISSN: | 2041-1723 |
| Pure ID: | 135847877 |
| Divisions: | Current > QUT Faculties and Divisions > Faculty of Health Current > Schools > School of Biomedical Sciences |
| Funding Information: | We thank the participants who donated their time, life experiences and DNA to this research, and the clinical and scientific teams that worked with them. We acknowledge support from the National Institute for Health Research (NIHR), through the NIHR Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust and King’s College London. Health Data Research UK (MR/S003126/1). Acknowledgments for each cohort that contributed to this meta-analysis can be found in the supplementary information. We thank the participants who donated their time, life experiences and DNA to this research, and the clinical and scientific teams that worked with them. We acknowledge support from the National Institute for Health Research (NIHR), through the NIHR Biomedical Research Centre based at Guy’s and St Thomas’ NHS Foundation Trust and King’s College London. Health Data Research UK (MR/S003126/1). Acknowledgments for each cohort that contributed to this meta-analysis can be found in the supplementary information. |
| Copyright Owner: | 2022 The Author(s) |
| Copyright Statement: | This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au |
| Deposited On: | 13 Jun 2023 23:54 |
| Last Modified: | 03 Jun 2024 09:37 |
Export: EndNote | Dublin Core | BibTeX
Repository Staff Only: item control page
CORE (COnnecting REpositories)
CORE (COnnecting REpositories)