Non-major-histocompatibility-complex genetics of ankylosing spondylitis

Brown, Matthew A. (2006) Non-major-histocompatibility-complex genetics of ankylosing spondylitis. Best Practice and Research: Clinical Rheumatology, 20(3), pp. 611-621.

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There is strong evidence from twin and family studies indicating that a substantial proportion of the heritability of susceptibility to ankylosing spondylitis (AS) and its clinical manifestations is encoded by non-major-histocompatibility-complex genes. Efforts to identify these genes have included genomewide linkage studies and candidate gene association studies. One region, the interleukin (IL)-1 gene complex on chromosome 2, has been repeatedly associated with AS in both Caucasians and Asians. It is likely that more than one gene in this complex is involved in AS, with the strongest evidence to date implicating IL-1A. Identifying the genes underlying other linkage regions has been difficult due to the lack of obvious candidates and the low power of most studies to date to identify genes of the small to moderate magnitude that are likely to be involved. The field is moving towards genomewide association analysis, involving much larger datasets of unrelated cases and controls. Early successes using this approach in other diseases indicates that it is likely to identify genes in common diseases like AS, but there remains the risk that the common-variant, common-disease hypothesis will not hold true in AS. Nonetheless, it is appropriate for the field to be cautiously optimistic that the next few years will bring great advances in our understanding of the genetics of this condition.

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ID Code: 87874
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: ankylosing spondylitis, association, genetics, interleukin-1 gene complex, linkage, alpha 1 antitrypsin, caspase recruitment domain protein 15, CD14 antigen, cytochrome P450 2D6, debrisoquine 4 hydroxylase, HLA B27 antigen, immunoglobulin, immunoglobulin enhancer binding protein, interleukin 1, interleukin 1 receptor blocking agent, interleukin 10, interleukin 1alpha, interleukin 1beta, interleukin 6, major histocompatibility antigen, nonsteroid antiinflammatory agent, protein tyrosine phosphatase, stromelysin, T lymphocyte receptor alpha chain, T lymphocyte receptor beta chain, toll like receptor 4, transforming growth factor beta1, tumor necrosis factor alpha antibody, Asian, Caucasian, chromosome 2, clinical feature, drug targeting, family study, gene identification, gene linkage disequilibrium, genetic analysis, genetic association, genetic code, genetic database, genetic linkage, genetic risk, genetic susceptibility, genetic variability, heritability, human, hypothesis, major histocompatibility complex, mouse, nonhuman, priority journal, review, single nucleotide polymorphism, twins, variable number of tandem repeat, Asian Continental Ancestry Group, Cytochrome P-450 CYP2D6, European Continental Ancestry Group, Family Health, Genetic Markers, Genetic Predisposition to Disease, HLA-B27 Antigen, Humans, Interleukin-1, Intracellular Signaling Peptides and Proteins, Linkage (Genetics), Nod2 Signaling Adaptor Protein, Phosphate Transport Proteins, Proteins, Spondylitis, Ankylosing, Transforming Growth Factor beta, Twin Studies
DOI: 10.1016/j.berh.2006.03.005
ISSN: 1521-6942
Divisions: Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 29 Sep 2015 06:01
Last Modified: 16 Feb 2016 03:57

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