title: Genetic variations and humoral immune responses to myelin oligodendroglia glycoprotein in adult phenotypes of X-linked adrenoleukodystrophy.
abstract: 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.
authors.affiliation: Department of Neurology, University of Bonn, Sigmund-Freud-Str. 20, 53105, Bonn, Germany. Stephan.Schmidt@ukb.uni-bonn.de
authors.forename: Stephan
authors.initials: S
authors.lastname: Schmidt
authors.forename: Giovanna Maria
authors.initials: GM
authors.lastname: Marrosu
authors.forename: Heike
authors.initials: H
authors.lastname: Kölsch
authors.forename: Claus G
authors.initials: CG
authors.lastname: Haase
authors.forename: Stanislav
authors.initials: S
authors.lastname: Ferenczik
authors.forename: Piotr
authors.initials: P
authors.lastname: Sokolowski
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Köhler
authors.forename: Martina
authors.initials: M
authors.lastname: Schmidt
authors.forename: Andreas
authors.initials: A
authors.lastname: Papassotiropoulos
authors.forename: Reinhard
authors.initials: R
authors.lastname: Heun
authors.forename: Hans
authors.initials: H
authors.lastname: Grosse-Wilde
authors.forename: Thomas
authors.initials: T
authors.lastname: Klockgether
mesh_terms: 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
chemical_list: 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