作者
Vilija G Jokubaitis, Maria Pia Campagna, Omar Ibrahim, Jim Stankovich, Pavlina Kleinova, Fuencisla Matesanz, Daniel Hui, Sara Eichau, Mark Slee, Jeannette Lechner-Scott, Rodney Lea, Trevor J Kilpatrick, Tomas Kalincik, Philip L De Jager, Ashley Beecham, Jacob L McCauley, Bruce V Taylor, Steve Vucic, Louise Laverick, Karolina Vodehnalova, Maria-Isabel García-Sanchéz, Antonio Alcina, Anneke Van Der Walt, Eva Kubala Havrdova, Guillermo Izquierdo, Nikolaos Patsopoulos, Dana Horakova, Helmut Butzkueven
发表日期
2023/6
期刊
Brain
卷号
146
期号
6
页码范围
2316-2331
出版商
Oxford University Press
简介
Multiple sclerosis is a leading cause of neurological disability in adults. Heterogeneity in multiple sclerosis clinical presentation has posed a major challenge for identifying genetic variants associated with disease outcomes.
To overcome this challenge, we used prospectively ascertained clinical outcomes data from the largest international multiple sclerosis registry, MSBase. We assembled a cohort of deeply phenotyped individuals of European ancestry with relapse-onset multiple sclerosis. We used unbiased genome-wide association study and machine learning approaches to assess the genetic contribution to longitudinally defined multiple sclerosis severity phenotypes in 1813 individuals.
Our primary analyses did not identify any genetic variants of moderate to large effect sizes that met genome-wide significance thresholds. The strongest signal was associated with rs7289446 (β = −0.4882, P = 2 …
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VG Jokubaitis, MP Campagna, O Ibrahim, J Stankovich… - Brain, 2023