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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.

Original publication

DOI

10.2174/1566524043479284

Type

Journal article

Journal

Current molecular medicine

Publication Date

02/2004

Volume

4

Pages

13 - 20

Addresses

Wellcome Trust Centre For Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK.

Keywords

Animals, Humans, Mice, Spondylitis, Ankylosing, Disease Susceptibility, Histocompatibility Antigens Class I, HLA-B27 Antigen, Histocompatibility Antigens Class II, Cytokines, Chromosome Mapping, Gene Expression, Genetic Linkage