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[Alpha]B-crystallin genotype has impact on the multiple sclerosis phenotype
T van Veen1, L van Winsen, J B A Crusius
1Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands. T.vanveen@VUMC.NL
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.