Predisposing factors in the spondyloarthropathies: new insights into the role of HLA-B27

Spondyloarthropathies represent complex genetic diseases whose development is influenced by environmental factors. Estimates suggest that three to nine loci may be responsible for the majority of the genetic susceptibility to ankylosing spondylitis. The only susceptibility locus identified to date i...

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Bibliographic Details
Published in:Current rheumatology reports 2001-10, Vol.3 (5), p.404-411
Main Authors: Colbert, R A, Prahalad, S
Format: Article
Language:English
Subjects:
Causality
Female
Gene Expression Regulation
Genetic Testing
HLA-B27 Antigen - analysis
HLA-B27 Antigen - genetics
Humans
Incidence
Male
Polymorphism, Genetic
Risk Assessment
Sensitivity and Specificity
Spondylarthropathies - epidemiology
Spondylarthropathies - genetics
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Summary:Spondyloarthropathies represent complex genetic diseases whose development is influenced by environmental factors. Estimates suggest that three to nine loci may be responsible for the majority of the genetic susceptibility to ankylosing spondylitis. The only susceptibility locus identified to date in multiple populations is HLA-B, where several HLA-B27 alleles (subtypes) are strongly associated with disease. Recent evidence implicates cytochrome P450 2D6 as a second locus, although its influence on overall risk appears small. Despite considerable efforts to define how HLA-B27 contributes to disease, its role remains enigmatic. Increasing evidence suggests it has effects that are unrelated to its physiologic function. The basis for this is unknown but may be a consequence of the unusual tendency of this allele to misfold.
ISSN:1523-3774
1534-6307
DOI:10.1007/s11926-996-0011-9