Association of X-linked adrenoleukodystrophy with HLA DRB1 alleles.
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.
D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000276:immunology*; D000483:Alleles; D001921:Brain / Q000378:metabolism; D002478:Cells, Cultured; D002648:Child; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005347:Fibroblasts / Q000276:immunology; D005802:Genes, MHC Class II; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D007962:Leukocytes / Q000276:immunology; D009103:Multiple Sclerosis / Q000235:genetics / Q000276:immunology; D010641:Phenotype; D014960:X Chromosome
D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D004247:DNA