Investigation of a genetic variation of a variable number tandem repeat polymorphism of interleukin-6 gene in patients with multiple sclerosis.
Interleukin-6 (IL-6) plays an important role in the regulation of the inflammatory response in multiple sclerosis (MS) and its animal model, experimental autoimmune encephalomyelitis (EAE). Previous reports indicated that the C allele of a variable number tandem repeat (vntr) polymorphism located in the 3'flanking region of the IL-6 gene ( IL-6) is associated with reduced activity of IL-6 in vivo. Since disease-modifying genes are likely to contribute to phenotypic differences in MS patients, we tested the hypothesis that the IL-6 C allele is associated with the clinical course of MS. The IL-6 C allele was equally distributed between 217 MS patients of German Caucasian origin and 111 age-mached healthy controls. Stratification of patients according to the course of disease revealed no significant difference of IL-6 C allele distribution between patients with primary progressive and those with either relapsing-remitting or secondary progressive MS although IL-6 C allele was more frequent in patients with RR-MS. Since IL-6 C allele has been associated with a benign course in Sardinian MS patients, we further analysed an independent sample of 125 Sardinian MS patients revealing that IL-6 C allele was much more frequent than in German MS patients. Taken together, a disease-modifying effect of IL-6 C allele could not be demonstrated in MS patients of German Caucasian descent.
Schmidt
Stephan
S
Dept. of Neurology, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany. stephan.schmidt@ukb.uni-bonn.de
Papassotiropoulos
Andreas
A
Sotgiu
Stefano
S
Kölsch
Heike
H
Arru
Giannina
G
Fois
Maria Laura
ML
Haase
Claus G
CG
Schmitz
Sandra
S
König
Nicolaus
N
Harzheim
Michael
M
Heun
Reinhard
R
Klockgether
Thomas
T
D000328:Adult; D000483:Alleles; D000704:Analysis of Variance; D016009:Chi-Square Distribution; D003596:Cytosine; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics*; D009103:Multiple Sclerosis / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
D015850:Interleukin-6; D003596:Cytosine