Genomic risk scores for juvenile idiopathic arthritis and its subtypes.

Journal: Annals of the rheumatic diseases
PMID: 32887683

Abstract

OBJECTIVES: Juvenile idiopathic arthritis (JIA) is an autoimmune disease and a common cause of chronic disability in children. Diagnosis of JIA is based purely on clinical symptoms, which can be variable, leading to diagnosis and treatment delays. Despite JIA having substantial heritability, the construction of genomic risk scores (GRSs) to aid or expedite diagnosis has not been assessed. Here, we generate GRSs for JIA and its subtypes and evaluate their performance.

Authors

  • Rodrigo Cánovas
    Cambridge Baker Systems Genomics Initiative, Baker Heart Research Institute - BHRI, Melbourne, Victoria, Australia.
  • Joanna Cobb
    Childhood Arthritis, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Marta Brozynska
    Cambridge Baker Systems Genomics Initiative, Baker Heart Research Institute - BHRI, Melbourne, Victoria, Australia.
  • John Bowes
    Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, University of Manchester, Manchester, United Kingdom.
  • Yun R Li
    Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.
  • Samantha Louise Smith
    Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, University of Manchester, Manchester, United Kingdom.
  • Hakon Hakonarson
    The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Wendy Thomson
    Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, University of Manchester, Manchester, United Kingdom.
  • Justine A Ellis
    Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
  • Gad Abraham
    Cambridge Baker Systems Genomics Initiative, Baker Heart Research Institute - BHRI, Melbourne, Victoria, Australia.
  • Jane E Munro
    Childhood Arthritis, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Michael Inouye
    Cambridge Baker Systems Genomics Initiative, Baker Heart Research Institute - BHRI, Melbourne, Victoria, Australia minouye@baker.edu.au.

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