Abstract
Ankylosing spondylitis is a highly heritable, common rheumatic condition, primarily affecting the axial skeleton. The association with HLA-B27 has been demonstrated worldwide, and evidence for a role of HLA-B27 in disease comes from linkage and association studies in humans, and transgenic animal models. However, twin studies indicate that HLA-B27 contributes only 16% of the total genetic risk for disease. Furthermore, there is compelling evidence that non-B27 genes, both within and outwith the major histocompatability complex, are involved in disease aetiology. In this post-genomic era we have the tools to help elicit the genetic basis of disease. This review describes methods for genetic investigation of ankylosing spondylitis, and summarises the status of current research in this exciting area.
Keywords: Ankylosing Spondylitis, HLA-B27, genomic
Current Molecular Medicine
Title: Genetic Susceptibility to Ankylosing Spondylitis
Volume: 4 Issue: 1
Author(s): Anne-Marie Sims, B. Paul Wordsworth and Matthew A. Brown
Affiliation:
Keywords: Ankylosing Spondylitis, HLA-B27, genomic
Abstract: Ankylosing spondylitis is a highly heritable, common rheumatic condition, primarily affecting the axial skeleton. The association with HLA-B27 has been demonstrated worldwide, and evidence for a role of HLA-B27 in disease comes from linkage and association studies in humans, and transgenic animal models. However, twin studies indicate that HLA-B27 contributes only 16% of the total genetic risk for disease. Furthermore, there is compelling evidence that non-B27 genes, both within and outwith the major histocompatability complex, are involved in disease aetiology. In this post-genomic era we have the tools to help elicit the genetic basis of disease. This review describes methods for genetic investigation of ankylosing spondylitis, and summarises the status of current research in this exciting area.
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Cite this article as:
Sims Anne-Marie, Wordsworth Paul B. and Brown A. Matthew, Genetic Susceptibility to Ankylosing Spondylitis, Current Molecular Medicine 2004; 4 (1) . https://dx.doi.org/10.2174/1566524043479284
DOI https://dx.doi.org/10.2174/1566524043479284 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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