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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

[Alpha]B-crystallin genotype has impact on the multiple sclerosis phenotype.

BACKGROUND: Both multiple sclerosis ( MS) susceptibility and MS clinical phenotype are in part genetically determined. [Alpha]B-crystallin is a candidate autoantigen in MS, and there are three polymorphisms in the promoter region of the encoding gene (CRYAB): at positions -C249G, -C650G, and -A652G. METHODS: These polymorphisms were studied in sporadic cases of MS, assessing disease susceptibility, clinical phenotype, and MRI appearance. RESULTS: The CRYAB polymorphisms influenced susceptibility as well as disease expression in MS. CONCLUSION: Carriers of the rare allele CRYAB-650*C had an increased likelihood of a noninflammatory, neurodegenerative phenotype characterized by a relatively rapid, primary progressive clinical disease course.[1]


  1. [Alpha]B-crystallin genotype has impact on the multiple sclerosis phenotype. van Veen, T., van Winsen, L., Crusius, J.B., Kalkers, N.F., Barkhof, F., Peña, A.S., Polman, C.H., Uitdehaag, B.M. Neurology (2003) [Pubmed]
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