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

Author

Listed:
  • Brittany L. Mitchell

    (QIMR Berghofer Medical Research Institute
    Queensland University of Technology (QUT))

  • Jake R. Saklatvala

    (King’s College London)

  • Nick Dand

    (King’s College London
    Health Data Research UK)

  • Fiona A. Hagenbeek

    (Vrije Universiteit Amsterdam
    Amsterdam Public Health research institute)

  • Xin Li

    (Indiana University Richard M. Fairbanks School of Public Health
    Indiana University Melvin and Bren Simon Comprehensive Cancer Center)

  • Josine L. Min

    (University of Bristol
    University of Bristol)

  • Laurent Thomas

    (Norwegian University of Science and Technology
    Norwegian University of Science and Technology
    Norwegian University of Science and Technology)

  • Meike Bartels

    (Vrije Universiteit Amsterdam
    Amsterdam Public Health research institute)

  • Jouke Hottenga

    (Vrije Universiteit Amsterdam
    Amsterdam Public Health research institute)

  • Michelle K. Lupton

    (QIMR Berghofer Medical Research Institute)

  • Dorret I. Boomsma

    (Vrije Universiteit Amsterdam
    Amsterdam Public Health research institute)

  • Xianjun Dong

    (Brigham and Women’s Hospital
    Brigham and Women’s Hospital)

  • Kristian Hveem

    (NTNU, Norwegian University of Science and Technology
    Norwegian University of Science and Technology
    Nord-Trøndelag Hospital Trust)

  • Mari Løset

    (NTNU, Norwegian University of Science and Technology
    Trondheim University Hospital)

  • 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
    Indiana University Melvin and Bren Simon Comprehensive Cancer Center)

  • Catherine H. Smith

    (King’s College London)

  • Miguel E. Rentería

    (QIMR Berghofer Medical Research Institute
    Queensland University of Technology (QUT))

  • Michael A. Simpson

    (King’s College London)

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.

Suggested Citation

  • 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, 2022. "Genome-wide association meta-analysis identifies 29 new acne susceptibility loci," Nature Communications, Nature, vol. 13(1), pages 1-9, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-28252-5
    DOI: 10.1038/s41467-022-28252-5
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    References listed on IDEAS

    as
    1. Alexander A. Navarini & Michael A. Simpson & Michael Weale & Jo Knight & Isabelle Carlavan & Pascale Reiniche & David A. Burden & Alison Layton & Veronique Bataille & Michael Allen & Robert Pleass & A, 2014. "Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris," Nature Communications, Nature, vol. 5(1), pages 1-6, September.
    2. Li He & Wen-Juan Wu & Jian-Kang Yang & Hui Cheng & Xian-Bo Zuo & Wei Lai & Tian-Wen Gao & Cui-Lin Ma & Na Luo & Jian-Qing Huang & Feng-Yan Lu & Ye-Qiang Liu & Yi-Jin Huang & Qian-Jin Lu & Huai-Liang Z, 2014. "Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne," Nature Communications, Nature, vol. 5(1), pages 1-7, May.
    3. Tune H. Pers & Juha M. Karjalainen & Yingleong Chan & Harm-Jan Westra & Andrew R. Wood & Jian Yang & Julian C. Lui & Sailaja Vedantam & Stefan Gustafsson & Tonu Esko & Tim Frayling & Elizabeth K. Spel, 2015. "Biological interpretation of genome-wide association studies using predicted gene functions," Nature Communications, Nature, vol. 6(1), pages 1-9, May.
    4. Claudia Giambartolomei & Damjan Vukcevic & Eric E Schadt & Lude Franke & Aroon D Hingorani & Chris Wallace & Vincent Plagnol, 2014. "Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics," PLOS Genetics, Public Library of Science, vol. 10(5), pages 1-15, May.
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