title: [Alpha]B-crystallin genotype has impact on the multiple sclerosis phenotype.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands. T.vanveen@VUMC.NL
authors: T
authors: T
authors: van Veen
authors: L
authors: L
authors: van Winsen
authors: J B A
authors: JB
authors: Crusius
authors: N F
authors: NF
authors: Kalkers
authors: F
authors: F
authors: Barkhof
authors: A S
authors: AS
authors: Peña
authors: C H
authors: CH
authors: Polman
authors: B M J
authors: BM
authors: Uitdehaag
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016014:Linear Models; D015810:Linkage Disequilibrium; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D009426:Netherlands / Q000453:epidemiology; D016017:Odds Ratio; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D012720:Severity of Illness Index; D038203:alpha-Crystallin B Chain / Q000235:genetics*
chemical_list: D038203:alpha-Crystallin B Chain