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Review
. 2008 Jun;60(6):275-86.
doi: 10.1007/s00251-008-0295-1. Epub 2008 May 7.

The immunogenetics of multiple sclerosis

Arne Svejgaard  1
Affiliations
Review

The immunogenetics of multiple sclerosis

Arne Svejgaard. Immunogenetics. 2008 Jun.

Abstract

The discoveries in the 1970s of strong associations between various diseases and certain human leukocyte antigen (HLA) factors were a revolution within genetic epidemiology in the last century by demonstrating for the first time how genetic markers can help unravel the genetics of disorders with complex genetic backgrounds. HLA controls immune response genes and HLA associations indicate the involvement of autoimmunity. Multiple sclerosis (MS) was one of the first conditions proven to be HLA associated involving primarily HLA class II factors. We review how HLA studies give fundamental information on the genetics of the susceptibility to MS, on the importance of linkage disequilibrium in association studies, and on the pathogenesis of MS. The HLA-DRB1*1501 molecule may explain about 50% of MS cases and its role in the pathogenesis is supported by studies of transgenic mice. Studies of polymorphic non-HLA genetic markers are discussed based on linkage studies and candidate gene approaches including complete genome scans. No other markers have so far rivaled the importance of HLA in the genetic susceptibility to MS. Recently, large international collaborations provided strong evidence for the involvement of polymorphism of two cytokine receptor genes in the pathogenesis of MS: the interleukin 7 receptor alpha chain gene (IL7RA) on chromosome 5p13 and the interleukin 2 receptor alpha chain gene (IL2RA (=CD25)) on chromosome 10p15. It is estimated that the C allele of a single nucleotide polymorphism, rs6897932, within the alternative spliced exon 6 of IL7RA is involved in about 30% of MS cases.

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References

    1. Sleep. 1994 Dec;17(8 Suppl):S60-7 - PubMed
    1. Genes Immun. 2005 Mar;6(2):145-52 - PubMed
    1. N Engl J Med. 1990 Jun 28;322(26):1836-41 - PubMed
    1. Tissue Antigens. 1995 Oct;46(4):333-6 - PubMed
    1. Hum Mol Genet. 1998 Aug;7(8):1229-34 - PubMed

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