Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese

Davidson, S. I., Liu, Y., Danoy, P. A., Wu, X., Thomas, G. P., Jiang, L., Sun, L., Wang, N., Han, J., Han, H., Reveille, J. D., Evans, D. M., Savage, L., Ward, M. M., Weisman, M. H., Wordsworth, B. P., Visscher, P. M., Brown, Matthew A, & Xu, H. (2011) Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese. Annals of the Rheumatic Diseases, 70(2), pp. 289-292.

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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.


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.


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).


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.

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ID Code: 87735
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: endoplasmic reticulum aminopeptidase 1, interleukin 23 receptor, Janus kinase 2, protein, STAT3 protein, tumor necrosis factor receptor 1, tumor necrosis factor receptor associated death domain protein, unclassified drug, 3' untranslated region, 5' untranslated region, ankylosing spondylitis, article, case control study, Chinese, controlled study, gene expression, gene frequency, gene locus, genetic association, genetic variability, genotype, human, logistic regression analysis, major clinical study, meta analysis, microarray analysis, priority journal, single nucleotide polymorphism, Asian Continental Ancestry Group, Case-Control Studies, Genetic Markers, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide, Receptors, Tumor Necrosis Factor, Type I, Spondylitis, Ankylosing, STAT3 Transcription Factor
DOI: 10.1136/ard.2010.133322
ISSN: 0003-4967
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 25 Sep 2015 00:10
Last Modified: 25 Jun 2017 16:02

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