Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese

Davidson, Stuart I., Liu, Yu, Danoy, Patrick A., Wu, Xin, Thomas, Gethin P., Jiang, Lei, Sun, Linyun, Wang, Niansong, Han, Jun, Han, Huanxing, Visscher, Peter M., Brown, Matthew A. and Xu, Huji (2011) Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese. Annals of the Rheumatic Diseases, 70 2: 289-292. doi:10.1136/ard.2010.133322


Author Davidson, Stuart I.
Liu, Yu
Danoy, Patrick A.
Wu, Xin
Thomas, Gethin P.
Jiang, Lei
Sun, Linyun
Wang, Niansong
Han, Jun
Han, Huanxing
Visscher, Peter M.
Brown, Matthew A.
Xu, Huji
Title Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese
Formatted title
Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese
Journal name Annals of the Rheumatic Diseases   Check publisher's open access policy
ISSN 0003-4967
1468-2060
Publication date 2011-02-01
Year available 2010
Sub-type Article (original research)
DOI 10.1136/ard.2010.133322
Open Access Status Not yet assessed
Volume 70
Issue 2
Start page 289
End page 292
Total pages 4
Place of publication London, United Kingdom
Publisher BMJ Group
Language eng
Subject 2745 Rheumatology
2723 Immunology and Allergy
2403 Immunology
1300 Biochemistry, Genetics and Molecular Biology
Abstract Objectives Recent association studies by the Australo-Anglo-American Spondyloarthritis Consortium (TASC) in Caucasian European populations from Australia, North America and the UK have identified a number of genes as being associated with ankylosing spondylitis (AS). A candidate gene study in a Han Chinese population was performed based on these findings to identify associated genes in this population.
Formatted abstract
Objectives: Recent association studies by the Australo-Anglo-American Spondyloarthritis Consortium (TASC) in Caucasian European populations from Australia, North America and the UK have identified a number of genes as being associated with ankylosing spondylitis (AS). A candidate gene study in a Han Chinese population was performed based on these findings to identify associated genes in this population.

Methods: A case-control study was performed in a Han Chinese population of patients with AS (n=775) and controls (n=1587) from Shanghai and Nanjing. All patients met the modified New York criteria for AS. The cases and controls were genotyped for 115 single nucleotide polymorphisms (SNPs) tagging IL23R, ERAP1, STAT3, JAK2, TNFRSF1A and TRADD, as well as other confirmation SNPs from the TASC study, using the Sequenom iPlex and the ABI OpenArray platforms. Statistical analysis of genotyped SNPs was performed using the Cochran–Armitage test for trend and meta-analysis was performed using METAL. SNPs in AS-associated genes in this study were then imputed using MaCH, and association with AS tested by logistic regression.

Results: SNPs in TNFRSF1A (rs4149577, p=8.2×10−4), STAT3 (rs2293152, p=0.0015; rs1053005, p=0.017) and ERAP1 (rs27038, p=0.0091; rs27037, p=0.0092) were significantly associated with AS in Han Chinese. Association was also observed between AS and the intergenic region 2p15 (rs10865331, p=0.023). The lack of association between AS and IL23R in Han Chinese was confirmed (all SNPs p>0.1).

Conclusions: The study results demonstrate for the first time that genetic polymorphisms in STAT3, TNFRSF1A and 2p15 are associated with AS in Han Chinese, suggesting common pathogenic mechanisms for the disease in Chinese and Caucasian European populations. Furthermore, previous findings demonstrating that ERAP1, but not IL23R, is associated with AS in Chinese patients were confirmed.
Copyright © 2011 BMJ Publishing Group Ltd & European League Against Rheumatism. All rights reserved.

Keyword Inflammatory bowel disease
Genome wide association
Growth factor beta
Helper T-cells
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 30972339
08XD1400400
P01-052915
Institutional Status UQ
Additional Notes Available online: 10 November 2010

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
UQ Diamantina Institute Publications
 
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Created: Fri, 25 Feb 2011, 20:16:06 EST by Kylie Hengst on behalf of UQ Diamantina Institute