Evidence of genetic association between TNFRSF1A encoding the p55 tumour necrosis factor receptor, and ankylosing spondylitis in UK Caucasians

Karaderi, T., Pointon, J. J., Wordsworth, T. W. H., Harvey, D., Appleton, L. H., Cohen, C. J., Farrar, C., Harin, A., Brown, M.A., & Wordsworth, B. P. (2012) Evidence of genetic association between TNFRSF1A encoding the p55 tumour necrosis factor receptor, and ankylosing spondylitis in UK Caucasians. Clinical and Experimental Rheumatology, 30(1), pp. 110-113.

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To replicate the possible genetic association between ankylosing spondylitis (AS) and TNFRSF1A.


TNFRSF1A was re-sequenced in 48 individuals with AS to identify novel polymorphisms. Nine single nucleotide polymorphisms (SNPs) in TNFRSF1A and 5 SNPs in the neighbouring gene SCNN1A were genotyped in 1604 UK Caucasian individuals with AS and 1019 matched controls. An extended study was implemented using additional genotype data on 8 of these SNPs from 1400 historical controls from the 1958 British Birth Cohort. A meta-analysis of previously published results was also undertaken.


One novel variant in intron 6 was identified but no new coding variants. No definite associations were seen in the initial study but in the extended study there were weak associations with rs4149576 (p=0.04) and rs4149577 (p=0.007). In the metaanalysis consistent, somewhat stronger associations were seen with rs4149577 (p=0.002) and rs4149578 (p=0.006).


These studies confirm the weak genetic associations between AS and TNFRSF1A. In view of the previously reported associations of TNFRSF1A with AS, in Caucasians and Chinese, and the biological plausibility of this candidate gene, replication of this finding in well powered studies is clearly indicated.

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ID Code: 87990
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: Meta-analysis, Polymorphism, SCNN1A, Spondyloarthropathy, TNFR1, protein p55, tumor necrosis factor receptor, ankylosing spondylitis, article, Caucasian, controlled study, gene, gene replication, genetic association, genetic variability, genotyping technique, human, major clinical study, molecular pathology, priority journal, SCNN1A gene, sequence analysis, single nucleotide polymorphism, TNFRSF1A gene, United Kingdom, Case-Control Studies, European Continental Ancestry Group, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Great Britain, Humans, Polymorphism, Single Nucleotide, Receptors, Tumor Necrosis Factor, Type I, Spondylitis, Ankylosing
ISSN: 0392-856X
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 01 Oct 2015 23:10
Last Modified: 25 Feb 2016 04:52

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