[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.


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.
van Veen
T
T
Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands. T.vanveen@VUMC.NL
van Winsen
L
L
Crusius
J B A
JB
Kalkers
N F
NF
Barkhof
F
F
Peña
A S
AS
Polman
C H
CH
Uitdehaag
B M J
BM
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*
D038203:alpha-Crystallin B Chain