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Curr Opin Genet Dev. 2011 Jun;21(3):317-24. doi: 10.1016/j.gde.2010.12.006. Epub 2011 Jan 17.

Revealing the genetic basis of multiple sclerosis: are we there yet?

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Department of Neurology, School of Medicine, University of California San Francisco, 513 Parnassus Ave., Room S-256, San Francisco, CA 94143-0435, United States.


For more than 30 years the only genetic factor associated with susceptibility to multiple sclerosis (MS) was the human leukocyte antigen (HLA) region. Recent advancements in genotyping platforms and the development of more effective statistical methods resulted in the identification of 16 more genes by genome-wide association studies (GWAS) in the last three years alone. While the effect of each of these genes is modest compared to that of HLA, this list is expected to grow significantly in the near future, thus defining a complex landscape in which susceptibility may be determined by a combination of allelic variants in different pathways according to ethnic background, disease sub-type, and specific environmental triggers. A considerable overlap of susceptibility genes among multiple autoimmune diseases is becoming evident and integration of these genetic variants with our current knowledge of affected biological pathways will greatly improve our understanding of mechanisms of general autoimmunity and of tissue specificity.

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