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

Brittany L. Mitchell, Jake R. Saklatvala, Nick Dand, Fiona A. Hagenbeek, Xin Li, Josine L. Min, Laurent Thomas, Meike Bartels, Jouke 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 () and Michael A. Simpson ()
Additional contact information
Brittany L. Mitchell: QIMR Berghofer Medical Research Institute
Jake R. Saklatvala: King’s College London
Nick Dand: King’s College London
Fiona A. Hagenbeek: Vrije Universiteit Amsterdam
Xin Li: Indiana University Richard M. Fairbanks School of Public Health
Josine L. Min: University of Bristol
Laurent Thomas: Norwegian University of Science and Technology
Meike Bartels: Vrije Universiteit Amsterdam
Jouke Hottenga: Vrije Universiteit Amsterdam
Michelle K. Lupton: QIMR Berghofer Medical Research Institute
Dorret I. Boomsma: Vrije Universiteit Amsterdam
Xianjun Dong: Brigham and Women’s Hospital
Kristian Hveem: NTNU, Norwegian University of Science and Technology
Mari Løset: NTNU, Norwegian University of Science and Technology
Nicholas G. Martin: QIMR Berghofer Medical Research Institute
Jonathan N. Barker: King’s College London
Jiali Han: Indiana University Richard M. Fairbanks School of Public Health
Catherine H. Smith: King’s College London
Miguel E. Rentería: QIMR Berghofer Medical Research Institute
Michael A. Simpson: King’s College London

Nature Communications, 2022, vol. 13, issue 1, 1-9

Abstract: 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.

Date: 2022
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DOI: 10.1038/s41467-022-28252-5

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