Contribution of Rare Genetic Variation to Disease Susceptibility in a Large Scandinavian Myositis Cohort,Arthritis & Rheumatology

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Contribution of Rare Genetic Variation to Disease Susceptibility in a Large Scandinavian Myositis Cohort
Arthritis & Rheumatology ( IF 11.4 ) Pub Date : 2021-07-19 , DOI: 10.1002/art.41929
Matteo Bianchi ₁ , Sergey V Kozyrev ₁ , Antonella Notarnicola ₂ , Lina Hultin Rosenberg ₁ , Åsa Karlsson ₁ , Pascal Pucholt ₃ , Simon Rothwell ₄ , Andrei Alexsson ₃ , Johanna K Sandling ₃ , Helena Andersson ₅ , Robert G Cooper ₆ , Leonid Padyukov ₂ , Anna Tjärnlund ₂ , Maryam Dastmalchi ₂ , , , Jennifer R S Meadows ₁ , Louise Pyndt Diederichsen ₇ , Øyvind Molberg ₈ , Hector Chinoy ₉ , Janine A Lamb ₄ , Lars Rönnblom ₃ , Kerstin Lindblad-Toh ₁₀ , Ingrid E Lundberg ₂

Affiliation

Science for Life Laboratory and Uppsala University, Uppsala, Sweden.
Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Uppsala University, Uppsala, Sweden.
The University of Manchester, Manchester, UK.
Oslo University Hospital, Oslo, Norway.
Aintree University Hospital, MRC-Arthritis Research UK Centre for integrated Research into Musculoskeletal Ageing, and University of Liverpool, Liverpool, UK.
Rigshospitalet, Copenhagen, Denmark, and Odense University Hospital, Odense, Denmark.
Oslo University Hospital and University of Oslo, Oslo, Norway.
National Institute for Health Research Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, and Manchester Academic Health Science Centre, Manchester, UK, and Salford Royal NHS Foundation Trust, Salford, UK.
Science for Life Laboratory and Uppsala University, Uppsala, Sweden, and Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of complex autoimmune conditions characterized by inflammation in skeletal muscle and extramuscular compartments, and interferon (IFN) system activation. We undertook this study to examine the contribution of genetic variation to disease susceptibility and to identify novel avenues for research in IIMs.

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