Genetic variations and humoral immune responses to myelin oligodendroglia glycoprotein in adult phenotypes of X-linked adrenoleukodystrophy.
The lack of phenotype/genotype association in X-linked adrenoleukodystrophy (X-ALD) has prompted the search for disease modifying factors. We previously demonstrated increased serum antibody responses against myelin oligodendrocyte glycoprotein (MOG) in various clinical phenotypes of X-ALD allowing speculations that myelin specific humoral immune responses might be involved in phenotype generation of X-ALD. In the present study, we investigated the possible association of (1) a naturally occurring variable number tandem repeat (vntr) polymorphism (C allele) in the 3' flanking region of the interleukin-6 gene (IL-6), previously demonstrated to modify the course of Alzheimer's disease, systemic lupus erythematodes and Multiple Sclerosis (MS), (2) a tetranucleotide repeat polymorphism (TAAA)(n) in the 3' flanking region of the MOG gene and (3) HLA class II alleles with adult clinical phenotypes and serum antibody responses to MOG in 70 adult X-ALD patients. HLA class II alleles, (TAAA)(n) MOG gene polymorphisms, and IL-6 C allele were not associated with clinical phenotypes. Anti-MOG antibodies were detectable in 17/54 X-ALD patients (31.5%). Anti-MOG antibodies were associated with the 226 bp (TAAA)(n) MOG gene polymorphism but not with distinct clinical phenotypes.
Schmidt
Stephan
S
Department of Neurology, University of Bonn, Sigmund-Freud-Str. 20, 53105, Bonn, Germany. Stephan.Schmidt@ukb.uni-bonn.de
Marrosu
Giovanna Maria
GM
Kölsch
Heike
H
Haase
Claus G
CG
Ferenczik
Stanislav
S
Sokolowski
Piotr
P
Köhler
Wolfgang
W
Schmidt
Martina
M
Papassotiropoulos
Andreas
A
Heun
Reinhard
R
Grosse-Wilde
Hans
H
Klockgether
Thomas
T
D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000276:immunology; D000328:Adult; D000368:Aged; D000483:Alleles; D000917:Antibody Formation; D041321:Chromosomes, Human, X; D005260:Female; D008040:Genetic Linkage; D014644:Genetic Variation; D006683:HLA-DQ Antigens / Q000235:genetics; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats; D009185:Myelin Proteins; D018992:Myelin-Associated Glycoprotein / Q000235:genetics* / Q000276:immunology; D063308:Myelin-Oligodendrocyte Glycoprotein; D010641:Phenotype; D011110:Polymorphism, Genetic
D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D015850:Interleukin-6; C571326:MOG protein, human; D009185:Myelin Proteins; D018992:Myelin-Associated Glycoprotein; D063308:Myelin-Oligodendrocyte Glycoprotein