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Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis

Author

Listed:
  • Pavel Loginovic

    (University of Exeter Medical School, College of Medicine and Health, University of Exeter)

  • Feiyi Wang

    (HiLIFE, University of Helsinki)

  • Jiang Li

    (Weis Center for Research, Geisinger)

  • Lauric Ferrat

    (University of Exeter Medical School, St Luke’s Campus, University of Exeter)

  • Uyenlinh L. Mirshahi

    (Weis Center for Research, Geisinger)

  • H. Shanker Rao

    (Weis Center for Research, Geisinger)

  • Axel Petzold

    (Amsterdam UMC
    UCL Institute of Neurology
    Moorfields Eye Hospital)

  • Jessica Tyrrell

    (University of Exeter Medical School, University of Exeter)

  • Harry D. Green

    (University of Exeter Medical School, St Luke’s Campus, University of Exeter)

  • Michael N. Weedon

    (University of Exeter Medical School, St Luke’s Campus, University of Exeter)

  • Andrea Ganna

    (HiLIFE, University of Helsinki
    Massachusetts General Hospital)

  • Tiinamaija Tuomi

    (HiLIFE, University of Helsinki
    University of Helsinki and Helsinki University Hospital
    Folkhälsan Research Center
    Lund University Diabetes Centre, Department of Clinical Sciences, Lund University)

  • David J. Carey

    (Weis Center for Research, Geisinger)

  • Richard A. Oram

    (University of Exeter Medical School, St Luke’s Campus, University of Exeter
    Royal Devon University Healthcare NHS Foundation Trust)

  • Tasanee Braithwaite

    (School of Immunology & Microbial Sciences and School of Life Course and Population Sciences
    Guy’s and St Thomas’ NHS Foundation Trust)

Abstract

Optic neuritis (ON) is associated with numerous immune-mediated inflammatory diseases, but 50% patients are ultimately diagnosed with multiple sclerosis (MS). Differentiating MS-ON from non-MS-ON acutely is challenging but important; non-MS ON often requires urgent immunosuppression to preserve vision. Using data from the United Kingdom Biobank we showed that combining an MS-genetic risk score (GRS) with demographic risk factors (age, sex) significantly improved MS prediction in undifferentiated ON; one standard deviation of MS-GRS increased the Hazard of MS 1.3-fold (95% confidence interval 1.07–1.55, P

Suggested Citation

  • Pavel Loginovic & Feiyi Wang & Jiang Li & Lauric Ferrat & Uyenlinh L. Mirshahi & H. Shanker Rao & Axel Petzold & Jessica Tyrrell & Harry D. Green & Michael N. Weedon & Andrea Ganna & Tiinamaija Tuomi , 2024. "Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis," Nature Communications, Nature, vol. 15(1), pages 1-13, December.
  • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-44917-9
    DOI: 10.1038/s41467-024-44917-9
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    References listed on IDEAS

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    1. Alexander Dilthey & Stephen Leslie & Loukas Moutsianas & Judong Shen & Charles Cox & Matthew R Nelson & Gil McVean, 2013. "Multi-Population Classical HLA Type Imputation," PLOS Computational Biology, Public Library of Science, vol. 9(2), pages 1-13, February.
    2. Clare Bycroft & Colin Freeman & Desislava Petkova & Gavin Band & Lloyd T. Elliott & Kevin Sharp & Allan Motyer & Damjan Vukcevic & Olivier Delaneau & Jared O’Connell & Adrian Cortes & Samantha Welsh &, 2018. "The UK Biobank resource with deep phenotyping and genomic data," Nature, Nature, vol. 562(7726), pages 203-209, October.
    3. Charles R. Harris & K. Jarrod Millman & Stéfan J. Walt & Ralf Gommers & Pauli Virtanen & David Cournapeau & Eric Wieser & Julian Taylor & Sebastian Berg & Nathaniel J. Smith & Robert Kern & Matti Picu, 2020. "Array programming with NumPy," Nature, Nature, vol. 585(7825), pages 357-362, September.
    4. Mitja I. Kurki & Juha Karjalainen & Priit Palta & Timo P. Sipilä & Kati Kristiansson & Kati M. Donner & Mary P. Reeve & Hannele Laivuori & Mervi Aavikko & Mari A. Kaunisto & Anu Loukola & Elisa Lahtel, 2023. "FinnGen provides genetic insights from a well-phenotyped isolated population," Nature, Nature, vol. 613(7944), pages 508-518, January.
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