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Genetics of ankylosing spondylitis
1Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia. matt.brown@uq.edu.au
Current Opinion in Rheumatology
|January 20, 2010
Summary
Recent genetic discoveries reveal new genes and gene deserts linked to ankylosing spondylitis (AS). These findings illuminate the disease
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Ankylosing spondylitis (AS) is a chronic inflammatory condition.
- Genetic factors play a significant role in AS pathogenesis.
Purpose of the Study:
- To review major genetic findings associated with AS over the past three years.
- To discuss how these discoveries advance understanding of AS pathogenesis.
Main Methods:
- Literature review of recent genetic association studies in AS.
- Analysis of identified genes, gene deserts, and their functional implications.
Main Results:
- Five genes/regions definitively linked to AS: MHC, IL23R, ERAP1, 2p15, and 21q22.
- Strong evidence for IL1R2, ANTXR2, TNFSF15, TNFR1, and 16q (TRADD).
- Overrepresentation of Th17 pathway genes suggests a key role in AS, inflammatory bowel disease, and psoriasis.
Conclusions:
- Identified genes provide a basis for hypothesis-driven research into AS mechanisms.
- Focusing on identified genes offers an alternative to solely studying HLA-B27.
- Noncoding RNA involvement is suggested by gene desert associations.
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