The genetics of multiple sclerosis: SNPs to pathways to pathogenesis.
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.
Oksenberg
Jorge R
JR
Department of Neurology, School of Medicine, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, California 94143-0435, USA. jorge.oksenberg@ucsf.edu
Baranzini
Sergio E
SE
Sawcer
Stephen
S
Hauser
Stephen L
SL
D000818:Animals; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D006680:HLA Antigens