Neurology. 2003 Nov 11;61(9):1245-1249
Van Veen T, Van Winsen L, Crusius JB, Kalkers NF, Barkhof F, Pena AS, Polman CH, Uitdehaag BM.
Departments of Neurology (Drs. van Winsen, Kalkers, Polman, and Uidehaag, T. van Veen) and Clinical Epidemiology and Biostatistics (Dr. Uidehaag, T. van Veen), Laboratory of Immunogenetics (Dr. Pena, J.B.A. Crusius), and MS-MRI Center (Dr. Barkhof), VU University Medical Center, Amsterdam, the Netherlands.
Both multiple sclerosis (MS) susceptibility and MS clinical phenotype are in part genetically determined.
alphaB-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.
These polymorphisms were studied in sporadic cases of MS, assessing disease susceptibility, clinical phenotype, and MRI appearance.
The CRYAB polymorphisms influenced susceptibility as well as disease expression in MS.
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.