αB-Crystallin genotype has impact on the multiple sclerosis phenotype

Background: Both multiple sclerosis (MS) susceptibility and MS clinical phenotype are in part genetically determined. αB-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.