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.
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Previous studies investigating the association of HLA type II haplotypes with cerebral involvement were not able to demonstrate significant associations.
“However, previous studies investigating this association were not able to demonstrate significant associations of certain HLA type II haplotypes with cerebral involvement.110–112”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [111]
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- Authors
- Schmidt, S., Marrosu, G. M., Kölsch, H., Haase, C. G., Ferenczik, S., Sokolowski, P., Köhler, W., Schmidt, M., Papassotiropoulos, A., Heun, R., Grosse-Wilde, H., & Klockgether, T.
- Affiliations
- University of Bonn (DE)
- Essen University Hospital (DE)
- University of Duisburg-Essen (DE)
- University of Zurich (CH)
- Corresponding author
- Schmidt, Stephan
- ORCID
- Venue
- Journal of Neuroimmunology
- Publisher
- Elsevier BV
- Published
- 2003-02
- Volume
- 135
- Issue
- 1-2
- Pages
- 148-153
- ISSN
- 0165-5728 (ISSN-L)
- OpenAlex
- W2148288454
- Cited by
- 8
- References
- 26
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 1 · 2020: 1 · 2015: 1
- FWCI
- 0.44
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Neuroimmunology (publishedVersion)
- PubMed (publishedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- X-linked adrenoleukodystrophy, myelin oligodendrocyte glycoprotein, anti-MOG antibodies, humoral immune response, IL-6 gene polymorphism, HLA class II alleles, clinical phenotype, genotype-phenotype correlation, disease-modifying factors
- MeSH terms
- Adrenoleukodystrophy, Adult, Aged, Alleles, Antibody Formation, Female, HLA-DQ Antigens, HLA-DR Antigens, Humans, Genetic Linkage, Male, Middle Aged, Myelin Proteins, Phenotype, Polymorphism, Genetic, Genetic Variation, Interleukin-6, Minisatellite Repeats, Myelin-Associated Glycoprotein, Chromosomes, Human, X, HLA-DRB1 Chains, HLA-DQ beta-Chains, Myelin-Oligodendrocyte Glycoprotein
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