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

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Brittany L. Mitchell, Jake R. Saklatvala, Nick Dand, Fiona A. Hagenbeek, Xin Li, Josine L. Min, Laurent Thomas, Meike Bartels, Jouke Jan Hottenga, Michelle K. Lupton, Dorret I. Boomsma, Xianjun Dong, Kristian Hveem, Mari Løset, Nicholas G. Martin, Jonathan N. Barker, Jiali Han, Catherine H. Smith, Miguel E. Rentería, Michael A. Simpson

Original languageEnglish
Article number702
JournalNature Communications
Volume13
Issue number1
Early online date7 Feb 2022
DOIs
E-pub ahead of print7 Feb 2022
PublishedDec 2022

Bibliographical note

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. 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. Publisher Copyright: © 2022, The Author(s).

King's Authors

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.

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