Genetics of ankylosing spondylitis

Brown, Matthew A. (2010) Genetics of ankylosing spondylitis. Current Opinion in Rheumatology, 22(2), pp. 126-132.

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Purpose of Review

Over the past 3 years, several new genes and gene deserts have been identified that are associated with ankylosing spondylitis (AS). The purpose of this review is to discuss the major findings of these studies, and the answers they provide and questions they raise about the pathogenesis of this common condition.

Recent Findings:

Five genes/genetic regions have now definitively been associated with AS [the major histocompatibility complex (MHC), IL23R, ERAP1, 2p15 and 21q22]. Strong evidence to support association with the disease has been demonstrated for the genes IL1R2, ANTXR2, TNFSF15, TNFR1 and a region on chromosome 16q including the gene TRADD. There is an overrepresentation of genes involved in Th17 lymphocyte differentiation/activation among genes associated with AS and the related diseases inflammatory bowel disease and psoriasis, pointing strongly to this pathway as playing a major causative role in the disease. Increasing information about differential association of HLA-B27 subtypes with disease suggests a hierarchy of strength of association of those alleles with AS, providing a useful test as to the validity of different potential mechanisms of association of HLA-B27 with AS. The mechanism underlying the association of the gene deserts, 2p15 and 21q22, suggests the involvement of noncoding RNA in AS etiopathogenesis.


The increasing list of genes identified as being definitely involved in AS provides a useful platform for hypothesis-driven research in the field, providing a potential alternative route to determining the underlying mechanisms involved in the disease to research focusing on HLA-B27 alone.

Impact and interest:

52 citations in Scopus
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45 citations in Web of Science®

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ID Code: 88005
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: ERAP1, Genetics, IL23R, KIR, Major histocompatibility complex, caspase recruitment domain signaling protein, HLA B27 antigen, interleukin 1 receptor type II, interleukin 23 receptor, tumor necrosis factor receptor 1, tumor necrosis factor receptor associated death domain protein, untranslated RNA, vascular endothelial growth inhibitor, ankylosing spondylitis, antxr2 gene, chromosome 16q, chromosome 21q, chromosome 2p, enteritis, ERAP1 gene, gene, gene overexpression, human, immunopathogenesis, priority journal, psoriasis, review, single nucleotide polymorphism, Th17 cell, Alleles, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 21, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Spondylitis, Ankylosing
DOI: 10.1097/BOR.0b013e3283364483
ISSN: 1040-8711
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 02 Oct 2015 01:53
Last Modified: 22 Aug 2016 01:42

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