Genetics of ankylosing spondylitis

Brown, Matthew A. (2010) Genetics of ankylosing spondylitis. Current Opinion In Rheumatology, 22 2: 126-132. doi:10.1097/BOR.0b013e3283364483

Author Brown, Matthew A.
Title Genetics of ankylosing spondylitis
Journal name Current Opinion In Rheumatology   Check publisher's open access policy
ISSN 1040-8711
Publication date 2010-03
Sub-type Article (original research)
DOI 10.1097/BOR.0b013e3283364483
Volume 22
Issue 2
Start page 126
End page 132
Total pages 7
Place of publication Philadelphia, PA, United States
Publisher Lippincott Williams & Wilkins
Collection year 2011
Language eng
Formatted abstract
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. © 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins.
Keyword ERAP1
Major histocompatibility complex
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 45 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 52 times in Scopus Article | Citations
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Created: Sun, 28 Feb 2010, 00:05:38 EST