Mr. Davidson and Dr. Wu contributed equally to this work.
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Spondylarthritis
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Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population
Article first published online: 29 OCT 2009
DOI: 10.1002/art.24933
Copyright © 2009 by the American College of Rheumatology
Additional Information
How to Cite
Davidson, S. I., Wu, X., Liu, Y., Wei, M., Danoy, P. A., Thomas, G., Cai, Q., Sun, L., Duncan, E., Wang, N., Yu, Q., Xu, A., Fu, Y., Brown, M. A. and Xu, H. (2009), Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population. Arthritis & Rheumatism, 60: 3263–3268. doi: 10.1002/art.24933
Publication History
- Issue published online: 29 OCT 2009
- Article first published online: 29 OCT 2009
- Manuscript Accepted: 2 AUG 2009
- Manuscript Received: 2 MAR 2009
Funded by
- National Natural Science Foundation of China. Grant Number: 30972339
- Science and Technology Commission of Shanghai Municipality. Grant Numbers: 07JC14070, 074017021
- Australian National Health
- Medical Research Council
- Sun Yat-Sen University Science Foundation
- Research Fund for the Doctoral Program of Higher Education of China
Abstract
Objective
The results of a recent genome-wide association study have shown that ERAP1 and IL23R are associated with ankylosing spondylitis (AS) in Caucasian populations from North America and the UK. Based on these findings, we undertook the current study to investigate whether single-nucleotide polymorphisms (SNPs) covering the genes ERAP1 and IL23R are associated with AS in a Han Chinese population.
Methods
A case–control study was performed in Han Chinese patients with AS (n = 527) and controls (n = 945) from Shanghai and Nanjing. All patients met the modified New York criteria for AS. The Sequenom iPlex platform was used to genotype cases and controls for 21 tag SNPs covering IL23R and 38 tag SNPs covering ERAP1. Statistical analysis was performed using the Cochran-Armitage test for trend.
Results
Multiple SNPs in ERAP1 were significantly associated with AS (for rs27980, P = 0.0048; for rs7711564, P = 0.0081). However, no association was observed between IL23R and AS (for all SNPs, P > 0.1). The nonsynonymous SNP in IL23R, rs11209026, widely thought to be the primary AS-associated SNP in IL23R in Europeans, was found not to be polymorphic in Chinese.
Conclusion
Our results demonstrate that genetic polymorphisms in ERAP1 are associated with AS in Han Chinese, suggesting a common pathogenic mechanism for the disease in Chinese and Caucasian populations, and that IL23R is not associated with AS in Chinese, indicating a difference in the mechanism of disease pathogenesis between Chinese and Caucasian populations. This may result from the fact that rs11209026, the nonsynonymous SNP in IL23R, is not polymorphic in Chinese patients, providing further evidence that rs11209026 is the key polymorphism associated with AS (and likely inflammatory bowel disease and psoriasis) in this gene.