A genetic basis for multiple sclerosis severity: Red herring or real?

Vilija G Jokubaitis; Helmut Butzkueven

doi:10.1016/j.mcp.2016.08.007

A genetic basis for multiple sclerosis severity: Red herring or real?

Mol Cell Probes. 2016 Dec;30(6):357-365. doi: 10.1016/j.mcp.2016.08.007. Epub 2016 Aug 18.

Authors

Vilija G Jokubaitis¹, Helmut Butzkueven²

Affiliations

¹ 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: [email protected].
² 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.

PMID: 27546889
DOI: 10.1016/j.mcp.2016.08.007

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.

Keywords: GWAS; Genetics; Multiple sclerosis; Phenotype; Prognosis; SNP.

Publication types

Review

MeSH terms

Disease Progression
Genetic Association Studies
Genetic Predisposition to Disease / genetics*
Genetic Variation*
Genome-Wide Association Study
Humans
Multiple Sclerosis / genetics*
Multiple Sclerosis / pathology
Risk Factors
Severity of Illness Index*