The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD)

Pointon, J. J., Harvey, D., Karaderi, T., Appleton, L. H., Farrar, C., Stone, M. A., Sturrock, R. D., Reveille, J. D., Weisman, M. H., Ward, M. M., Brown, Matthew A, & Wordsworth, B. P. (2010) The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD). Annals of the Rheumatic Diseases, 69(6), pp. 1243-1246.

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To replicate and refine the reported association of ankylosing spondylitis (AS) with two nonsynonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1.


Firstly, 730 independent UK patients with AS were genotyped for rs9939768 and rs6979 and allele frequencies were compared with 2879 previously typed historic disease controls. Secondly, the two data sets were combined in meta-analyses. Finally, 5 tagging SNPs, located between rs9939768 and rs6979, were analysed in 1604 cases and 1020 controls.


The association of rs6979 with AS was replicated, p=0.03, OR=1.14 (95% CI 1.01 to 1.28), and a trend for association with rs9939768 detected, p=0.06, OR=1.25 (95% CI 0.99 to 1.57). Meta-analyses revealed association of both SNPs with AS, p=0.0008, OR=1.31 (95% CI 1.12 to 1.54) and p=0.0009, OR=1.15 (95% CI 1.06 to 1.23) for rs9939768 and rs6979, respectively. New associations with rs9033 and rs868213 (p=0.00002, OR=1.23 (95% CI 1.12 to 1.36) and p=0.00002 OR=1.45 (95% CI 1.22 to 1.72), respectively, were identified.


The region on chromosome 16 that has been replicated in the present work is interesting as the highly plausible candidate gene, tumour necrosis factor receptor type 1 (TNFR1)-associated death domain (TRADD), is located between rs9033 and rs868213. It will require additional work to identify the primary genetic association(s) with AS.

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ID Code: 87744
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: tumor necrosis factor receptor associated death domain protein, ankylosing spondylitis, article, chromosome 16q, confidence interval, controlled study, gene frequency, gene identification, genetic association, genotype, human, major clinical study, priority journal, single nucleotide polymorphism, Case-Control Studies, Chromosomes, Human, Pair 16, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide, Spondylitis, Ankylosing, TNF Receptor-Associated Death Domain Protein
DOI: 10.1136/ard.2009.115147
ISSN: 0003-4967
Divisions: Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 24 Sep 2015 04:52
Last Modified: 22 Aug 2016 01:57

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