Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci

Reveille, J. D., Sims, A. M., Danoy, P., Evans, D. M., Leo, P., Pointon, J. J., Jin, R., Zhou, X., Bradbury, L. A., Appleton, L. H., Davis, J. C., Diekman, L., Doan, T., Dowling, A., Duan, R., Duncan, E. L., Farrar, C., Hadler, J., Harvey, D., Karaderi, T., Mogg, R., Pomeroy, E., Pryce, K., Taylor, J., Savage, L., Deloukas, P., Kumanduri, V., Peltonen, L., Ring, S. M., Whittaker, P., Glazov, E., Thomas, G. P., Maksymowych, W. P., Inman, R. D., Ward, M. M., Stone, M. A., Weisman, M. H., Wordsworth, B. P., & Brown, M. A. (2010) Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nature Genetics, 42(2), pp. 123-127.

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To identify susceptibility loci for ankylosing spondylitis, we undertook a genome-wide association study in 2,053 unrelated ankylosing spondylitis cases among people of European descent and 5,140 ethnically matched controls, with replication in an independent cohort of 898 ankylosing spondylitis cases and 1,518 controls. Cases were genotyped with Illumina HumHap370 genotyping chips. In addition to strong association with the major histocompatibility complex (MHC; P 10 800), we found association with SNPs in two gene deserts at 2p15 (rs10865331; combined P = 1.9 × 10 19) and 21q22 (rs2242944; P = 8.3 × 10 20), as well as in the genes ANTXR2 (rs4333130; P = 9.3 × 10 8) and IL1R2 (rs2310173; P = 4.8 × 10 7). We also replicated previously reported associations at IL23R (rs11209026; P = 9.1 × 10 14) and ERAP1 (rs27434; P = 5.3 × 10 12). This study reports four genetic loci associated with ankylosing spondylitis risk and identifies a major role for the interleukin (IL)-23 and IL-1 cytokine pathways in disease susceptibility. © 2010 Nature America, Inc. All rights reserved.

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ID Code: 89383
Item Type: Journal Article
Refereed: Yes
Additional Information: Cited By :229
Export Date: 21 September 2015
Correspondence Address: Reveille, J. D.; Rheumatology and Clinical Immunogenetics, University of Texas, Health Science Center at Houston, Houston, TX, United States; email:
Keywords: interleukin 1, interleukin 23, interleukin 23 receptor, adult, ankylosing spondylitis, antxr2 gene, article, chromosome 2p, cohort analysis, controlled study, disease predisposition, ERAP1 gene, female, gene identification, gene locus, gene replication, genetic association, genetic susceptibility, genotype, histocompatibility gene, human, major clinical study, major histocompatibility complex, male, priority journal, single nucleotide polymorphism, Cohort Studies, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Reproducibility of Results, Spondylitis, Ankylosing
DOI: 10.1038/ng.513
ISSN: 1061-4036
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright Nature America Inc
Deposited On: 22 Oct 2015 03:01
Last Modified: 22 Aug 2016 00:21

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