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

Geisinger-Regeneron DiscovEHR Collaboration; FinnGen; UKBB Eye & Vision Consortium; 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

doi:10.1038/s41467-024-44917-9

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

Geisinger-Regeneron DiscovEHR Collaboration, FinnGen, UKBB Eye & Vision Consortium, 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

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Sammanfattning

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

Originalspråk	engelska
Artikelnummer	1415
Tidskrift	Nature Communications
Volym	15
Nummer	1
Antal sidor	13
ISSN	2041-1723
DOI	https://doi.org/10.1038/s41467-024-44917-9
Status	Publicerad - 2024
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1038/s41467-024-44917-9

s41467-024-44917-9 (1)Slutlig publicerad version, 2,2 MBLicens: CC BY

Citera det här

Geisinger-Regeneron DiscovEHR Collaboration, FinnGen, UKBB Eye & Vision Consortium, Loginovic, P., Wang, F., Li, J., Ferrat, L., Mirshahi, U. L., Rao, H. S., Petzold, A., Tyrrell, J., Green, H. D., Weedon, M. N., Ganna, A., Tuomi, T., Carey, D. J., Oram, R. A., & Braithwaite, T. (2024). Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis. Nature Communications, 15(1), Artikel 1415. https://doi.org/10.1038/s41467-024-44917-9

@article{e7a0c6f925d04c8db33d7df98c3ed13a,

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

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 ",

keywords = "1184 Genetics, developmental biology, physiology",

author = "{Geisinger-Regeneron DiscovEHR Collaboration} and FinnGen and {UKBB Eye & Vision Consortium} and Pavel Loginovic and Feiyi Wang and Jiang Li and Lauric Ferrat and Mirshahi, {Uyenlinh L.} and Rao, {H. Shanker} and Axel Petzold and Jessica Tyrrell and Green, {Harry D.} and Weedon, {Michael N.} and Andrea Ganna and Tiinamaija Tuomi and Carey, {David J.} and Oram, {Richard A.} and Tasanee Braithwaite",

year = "2024",

doi = "10.1038/s41467-024-44917-9",

language = "English",

volume = "15",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Publishing Group",

number = "1",

}

Geisinger-Regeneron DiscovEHR Collaboration, FinnGen, UKBB Eye & Vision Consortium, Loginovic, P, Wang, F, Li, J, Ferrat, L, Mirshahi, UL, Rao, HS, Petzold, A, Tyrrell, J, Green, HD, Weedon, MN, Ganna, A , Tuomi, T, Carey, DJ, Oram, RA & Braithwaite, T 2024, 'Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis', Nature Communications, vol. 15, nr. 1, 1415. https://doi.org/10.1038/s41467-024-44917-9

TY - JOUR

T1 - Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis

AU - Geisinger-Regeneron DiscovEHR Collaboration

AU - FinnGen

AU - UKBB Eye & Vision Consortium

AU - Loginovic, Pavel

AU - Wang, Feiyi

AU - Li, Jiang

AU - Ferrat, Lauric

AU - Mirshahi, Uyenlinh L.

AU - Rao, H. Shanker

AU - Petzold, Axel

AU - Tyrrell, Jessica

AU - Green, Harry D.

AU - Weedon, Michael N.

AU - Ganna, Andrea

AU - Tuomi, Tiinamaija

AU - Carey, David J.

AU - Oram, Richard A.

AU - Braithwaite, Tasanee

PY - 2024

Y1 - 2024

N2 - 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

AB - 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

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1038/s41467-024-44917-9

DO - 10.1038/s41467-024-44917-9

M3 - Article

SN - 2041-1723

VL - 15

JO - Nature Communications

JF - Nature Communications

IS - 1

M1 - 1415

ER -