Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population

Davidson, Stuart I., Wu, Xin, Liu, Yu, Wei, Meng, Danoy, Patrick, Thomas, Gethin, Cai, Qing, Sun, Linyun, Duncan, Emma L., Wang, Niansong, Yu, Qinghong, Xu, Anlong, Fu, Yonggui, Brown, Matthew A., & Xu, Huji (2009) Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population. Arthritis and Rheumatism, 60(11), pp. 3263-3268.

View at publisher



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.


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.


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.


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.

Impact and interest:

71 citations in Scopus
Search Google Scholar™
75 citations in Web of Science®

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

ID Code: 87774
Item Type: Journal Article
Refereed: Yes
Keywords: aminopeptidase, interleukin 23 receptor, ankylosing spondylitis, article, Chinese, controlled study, endoplasmic reticulum aminopeptidase 1 gene, gene, gene locus, genetic predisposition, genotype, human, major clinical study, pathogenesis, priority journal, single nucleotide polymorphism, Aminopeptidases, Asian Continental Ancestry Group, Case-Control Studies, China, European Continental Ancestry Group, Genetic Predisposition to Disease, Great Britain, Humans, North America, Polymorphism, Single Nucleotide, Receptors, Interleukin, Spondylitis, Ankylosing
DOI: 10.1002/art.24933
ISSN: 0004-3591
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2009 by the American College of Rheumatology
Deposited On: 25 Sep 2015 05:28
Last Modified: 22 Aug 2016 22:21

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page