| Title: | Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis |
| Journal: | Nature Communications |
| Published: | 28 Feb 2024 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/38418465/ |
| DOI: | https://doi.org/10.1038/s41467-024-44917-9 |
| URL: | https://www.nature.com/articles/s41467-024-44917-9.pdf |
Publication 8639
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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 < 0.01). Participants stratified into quartiles of predicted risk developed incident MS at rates varying from 4% (95%CI 0.5-7%, lowest risk quartile) to 41% (95%CI 33-49%, highest risk quartile). The model replicated across two cohorts (Geisinger, USA, and FinnGen, Finland). This study indicates that a combined model might enhance individual MS risk stratification, paving the way for precision-based ON treatment and earlier MS disease-modifying therapy.</p>
15 Authors
- 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
- Tasanee Braithwaite
Enabling scientific discoveries that improve human health