The Genetics of Ankylosing Spondylitis and Axial Spondyloarthritis

Robinson, P. C. & Brown, Matthew A (2012) The Genetics of Ankylosing Spondylitis and Axial Spondyloarthritis. Rheumatic Disease Clinics of North America, 38(3), pp. 539-553.

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Ankylosing spondylitis (AS) and spondyloarthritis are strongly genetically determined. The long-standing association with HLA-B27 is well described, although the mechanism by which that association induces AS remains uncertain. Recent developments include the description of HLA-B27 tag single nucleotide polymorphisms in European and Asian populations. An increasing number of non-MHC genetic associations have been reported, which provided amongst other things the first evidence of the involvement of the IL-23 pathway in AS. The association with ERAP1 is now known to be restricted to HLA-B27 positive disease. Preliminary studies on the genetics of axial spondyloarthritis demonstrate a lower HLA-B27 carriage rate compared with AS. Studies with larger samples and including non-European ethnic groups are likely to further advance the understanding of the genetics of AS and spondyloarthritis. © 2012.

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ID Code: 89329
Item Type: Journal Article
Refereed: Yes
Additional Information: Cited By :15
Export Date: 21 September 2015
Correspondence Address: Brown, M.A.; University of Queensland Diamantina Institute, Princess Alexandra Hospital, Ipswich Road, Brisbane, Woolloongabba, QLD 4102, Australia; email:
Keywords: Ankylosing spondylitis, Arthritis, Axial spondyloarthritis, ERAP1, Genetics, Genomics, HLA-B27, HLA B27 antigen, interleukin 17 antibody, nonsteroid antiinflammatory agent, phosphatidylserine, tumor necrosis factor inhibitor, ADRB1 gene, allele, ANO6 gene, antigen presentation gene, antigen presenting cell, axial spondylarthritis, CARD9 gene, clinical practice, Crohn disease, disease course, drug activity, drug mechanism, EDIL3 gene, endoplasmic reticulum stress, environmental factor, ERAP1 gene, ERAP2 gene, ethnicity, gene, gene linkage disequilibrium, genetic association, genetic epidemiology, genetic variability, HAPLN1 gene, HLA B gene, HLA B27 gene, HLA DQA1 gene, hla drb1 gene, HLA typing, homozygosity, human, IL12B gene, IL1R2 gene, IL23R gene, immunopathogenesis, JAK2 gene, KIF21B gene, LMP2 gene, LTBR gene, major histocompatibility complex gene, mhc gene, NELL1 gene, nonhuman, nonmajor histocompatibility complex gene, NPEPPS gene, prediction, prevalence, priority journal, psoriasis, PTGER4 gene, review, RUNX3 gene, single nucleotide polymorphism, spondylarthritis, Stat3 gene, TAP2 gene, TBKBP1 gene, TBX21 gene, Th17 cell, TNF gene, TNFRSF1 gene, TRADD gene, Aminopeptidases, Asian Continental Ancestry Group, European Continental Ancestry Group, Genetic Predisposition to Disease, HLA-B27 Antigen, Humans, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Spondylitis, Ankylosing
DOI: 10.1016/j.rdc.2012.08.018
ISSN: 0889-857X
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 20 Oct 2015 23:24
Last Modified: 20 Oct 2015 23:46

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