The genetics of multiple sclerosis: SNPs to pathways to pathogenesis

Nat Rev Genet. 2008 Jul;9(7):516-26. doi: 10.1038/nrg2395. Epub 2008 Jun 10.


Multiple sclerosis (MS) is an autoimmune demyelinating disease and a common cause of neurological disability in young adults. The modest heritability of MS reflects complex genetic effects and multifaceted gene-environment interactions. The human leukocyte antigen (HLA) region is the strongest susceptibility locus for MS, but a genome-wide association study recently identified new susceptibility genes. Progress in high-throughput genotyping and sequencing technologies and a better understanding of the structural organization of the human genome, together with powerful brain-imaging techniques that refine the phenotype, suggest that the tools could finally exist to identify the full set of genes influencing the pathogenesis of MS.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Genetic Predisposition to Disease*
  • Genome, Human
  • HLA Antigens / genetics
  • Humans
  • Multiple Sclerosis / genetics*
  • Polymorphism, Single Nucleotide*


  • HLA Antigens