Association of X-Linked Adrenoleukodystrophy with HLA DRB1 Alleles
Abstract
Inflammatory demyelination in the central nervous system in the childhood cerebral phenotype of X-linked adrenoleukodystrophy (X-ALD) bears resemblance to that of multiple sclerosis. With a view to an association of HLA class II genes, specifically HLA-DRB1 subtype DRB1*15 to multiple sclerosis we investigated the HLA class II DR haplotype in 29 unrelated X-ALD patients including 17 childhood cerebral phenotype patients. Our results did not show an association of DRB1*15 and X-ALD, but disclosed a significant association of HLA DRB1*16 alleles and X-ALD in general. This finding suggests that in addition to the X-chromosomal ALD gene an autosomal gene linked to the HLA class II region is involved in the pathogenesis of X-ALD. This gene should affect a pathomechanism common to all ALD variants, such as defective peroxisomal metabolism of very long chain fatty acids.
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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 [110]
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- Authors
- Berger, J., Bernheimer, H., Fae, I., Braun, A., Roscher, A., Molzer, B., & Fischer, G.
- Affiliations
- University of Vienna (AT)
- Venue
- Biochemical and Biophysical Research Communications
- Publisher
- Elsevier BV
- Published
- 1995-11
- Volume
- 216
- Issue
- 2
- Pages
- 447-451
- ISSN
- 0006-291X (ISSN-L)
- OpenAlex
- W2066536244
- Cited by
- 16
- References
- 0
- Citations by year
- 2025: 1 · 2024: 3 · 2020: 1 · 2017: 1 · 2015: 1 · 2014: 1 · 2013: 1 · 2012: 1
- FWCI
- 0.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biochemical and Biophysical Research Communications (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Keywords
- X-linked adrenoleukodystrophy, HLA-DRB1, HLA-DRB1*16, HLA-DRB1*15, HLA class II association, multiple sclerosis, inflammatory demyelination, genetic susceptibility
- MeSH terms
- Adrenoleukodystrophy, Alleles, Brain, Cells, Cultured, Child, DNA, Fibroblasts, Genes, MHC Class II, HLA-DR Antigens, Humans, Leukocytes, Multiple Sclerosis, Phenotype, X Chromosome, HLA-DRB1 Chains
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