Glucocorticoid receptor gene polymorphisms associated with more aggressive disease phenotype in MS.
Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of the central nervous system, in which unknown environmental factors are thought to trigger disease in genetically susceptible persons. Glucocorticoids (GCs) play an important role in controlling chronic inflammatory diseases, like MS. Three polymorphisms in the glucocorticoid receptor (GR) gene (N363S, ER22/23EK and the Bcl I C/G) have been shown to alter glucocorticoid sensitivity, and therefore may influence disease course. We investigated the influence of these polymorphisms on clinical and MRI parameters. The ER22/23EK polymorphism was associated with a more aggressive MS phenotype, measured both clinically and on MRI.
van Winsen
L M L
LM
Department of Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. L.vanWinsen2@vumc.nl
Hooper-van Veen
T
T
van Rossum
E F C
EF
Koper
J W
JW
Barkhof
F
F
Polman
C H
CH
Uitdehaag
B M J
BM
D000328:Adult; D001120:Arginine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008239:Lysine / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000473:pathology; D016017:Odds Ratio; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*; D011965:Receptors, Glucocorticoid / Q000235:genetics*
D011965:Receptors, Glucocorticoid; D001120:Arginine; D008239:Lysine