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.
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
Jorge R
JR
Oksenberg
Sergio E
SE
Baranzini
Stephen
S
Sawcer
Stephen L
SL
Hauser
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