title: A genetic basis for multiple sclerosis severity: Red herring or real?
abstract: Multiple Sclerosis (MS) is an autoimmune degenerative disease of the central nervous system, characterized by multifocal demyelination and neurodegeneration. The genetic architecture of MS is complex, where genetic risk has been attributed to over 100 polymorphic loci each with small odds ratios. MS is a highly heterogeneous disease with numerous clinical and paraclinical endophenotypes. To-date, no genetic variant has been associated with clinical outcome, however, evidence exists that MS outcomes, like risk, are to an extent also controlled by genetic variation. Here we summarise the current evidence for genetic determination of disease outcomes and make recommendations for future research directions.
authors.affiliation: Department of Medicine and Melbourne Brain Centre at the Royal Melbourne Hospital, University of Melbourne, Australia; Department of Neurology, Royal Melbourne Hospital, Melbourne, Australia. Electronic address: vilija.jokubaitis@unimelb.edu.au.
authors.forename: Vilija G
authors.initials: VG
authors.lastname: Jokubaitis
authors.affiliation: Department of Medicine and Melbourne Brain Centre at the Royal Melbourne Hospital, University of Melbourne, Australia; Department of Neurology, Royal Melbourne Hospital, Melbourne, Australia; Department of Neurology, Box Hill Hospital, Monash University, Box Hill, Australia.
authors.forename: Helmut
authors.initials: H
authors.lastname: Butzkueven
mesh_terms: D018450:Disease Progression; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D009103:Multiple Sclerosis / Q000235:genetics* / Q000473:pathology; D012307:Risk Factors; D012720:Severity of Illness Index
keywords: GWAS; Genetics; Multiple sclerosis; Phenotype; Prognosis; SNP