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., The Australo-Anglo-American Spondyloarthritis Consortium, Kenna, Tony J., Gethin, Thomas P., Bradbury, Linda A. and Danoy, Patrick (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: 110-113.

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Name Description MIMEType Size Downloads
Author 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.
The Australo-Anglo-American Spondyloarthritis Consortium
Kenna, Tony J.
Gethin, Thomas P.
Bradbury, Linda A.
Danoy, Patrick
Total Author Count Override 19
Title Evidence of genetic association between TNFRSF1A encoding the p55 tumour necrosis factor receptor, and ankylosing spondylitis in UK Caucasians
Journal name Clinical and Experimental Rheumatology   Check publisher's open access policy
ISSN 0392-856X
1593-098X
Publication date 2012-01
Sub-type Article (original research)
Volume 30
Issue 1
Start page 110
End page 113
Total pages 4
Place of publication Ospedaletto, Italy
Publisher Pacini Editore SpA
Collection year 2013
Language eng
Formatted abstract
OBJECTIVES:
To replicate the possible genetic association between ankylosing spondylitis (AS) and TNFRSF1A.

METHODS:

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.

RESULTS:

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 meta-analysis consistent, somewhat stronger associations were seen with rs4149577 (p=0.002) and rs4149578 (p=0.006).

CONCLUSIONS:

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.
Keyword Spondyloarthropathy
Tnfr1
Scnn1a
Meta-analysis
Polymorphism
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
UQ Diamantina Institute Publications
 
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