rs1207401 - SEZ6L

Magnitude 2.2 · 1 study on file

Reported associations

• Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity. - Brain : a journal of neurology (2023) · Jokubaitis VG, Campagna MP, Ibrahim O, Stankovich J, Kleinova P, Matesanz F, Hui D, Eichau S, Slee M, Lechner-Scott J, Lea R, Kilpatrick TJ, Kalincik T, De Jager PL, Beecham A, McCauley JL, Taylor BV, Vucic S, Laverick L, Vodehnalova K, García-Sanchéz MI, Alcina A, van der Walt A, Havrdova EK, Izquierdo G, Patsopoulos N, Horakova D, Butzkueven H · PubMed 36448302

  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 g

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