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

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, David J. Carey, Richard A. Oram () and Tasanee Braithwaite
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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
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
Tiinamaija Tuomi: HiLIFE, University of Helsinki
David J. Carey: Weis Center for Research, Geisinger
Richard A. Oram: University of Exeter Medical School, St Luke’s Campus, University of Exeter
Tasanee Braithwaite: School of Immunology & Microbial Sciences and School of Life Course and Population Sciences

Nature Communications, 2024, vol. 15, issue 1, 1-13

Abstract: 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

Date: 2024
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DOI: 10.1038/s41467-024-44917-9

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