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To replicate and refine the reported association of ankylosing spondylitis (AS) with two non-synonymous 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.

Original publication

DOI

10.1136/ard.2009.115147

Type

Journal article

Journal

Annals of the rheumatic diseases

Publication Date

06/2010

Volume

69

Pages

1243 - 1246

Addresses

University of Oxford Institute for Musculoskeletal Sciences, Botnar Research Centre, Oxford OX3 7LD, UK. jenny.pointon@ndorms.ox.ac.uk

Keywords

Chromosomes, Human, Pair 16, Humans, Spondylitis, Ankylosing, Genetic Predisposition to Disease, Case-Control Studies, Gene Frequency, Polymorphism, Single Nucleotide, TNF Receptor-Associated Death Domain Protein