Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2).

Karaderi, T; Keidel, S; Pointon, J; Appleton, L; Brown, M; Evans, D; Wordsworth, B

Journal article

Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2).

Abstract:: OBJECTIVES: ANTXR2 variants have been associated with ankylosing spondylitis (AS) in two previous genome-wide association studies (GWAS) (p∼9×10(-8)). However, a genome-wide significant association (p<5×10(-8)) was not observed. We conducted a more comprehensive analysis of ANTXR2 in an independent UK sample to confirm and refine this association. METHODS: A replication study was carried out with 2978 cases and 8365 controls. Then, these were combined with non-overlapping samples from the two previous GWAS in a meta-analysis. Human leukocyte antigen (HLA)-B27 stratification was also performed to test for ANTXR2-HLA-B27 interaction. RESULTS: Out of nine single nucleotide polymorphisms (SNP) in the study, five SNPs were nominally associated (p<0.05) with AS in the replication dataset. In the meta-analysis, eight SNPs showed evidence of association, the strongest being with rs12504282 (OR=0.88, p=6.7×10(-9)). Seven of these SNPs showed evidence for association in the HLA-B27-positive subgroup, but none was associated with HLA-B27-negative AS. However, no statistically significant interaction was detected between HLA-B27 and ANTXR2 variants. CONCLUSIONS: ANTXR2 variants are clearly associated with AS. The top SNPs from two previous GWAS (rs4333130 and rs4389526) and this study (rs12504282) are in strong linkage disequilibrium (r(2)≥0.76). All are located near a putative regulatory region. Further studies are required to clarify the role played by these ANTXR2 variants in AS.

Publication status:: Published

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APA Style

Karaderi, T., Keidel, S., Pointon, J., Appleton, L., Brown, M., Evans, D., & Wordsworth, B. (2014). Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2). Annals of the Rheumatic Diseases, 73(11), 2054–2058.

MLA Style

Karaderi, T., et al. “Ankylosing Spondylitis Is Associated with the Anthrax Toxin Receptor 2 Gene (ANTXR2).” Annals of the Rheumatic Diseases, vol. 73, no. 11, BMJ Publishing Group, 2014, pp. 2054–58.

Chicago Style

Karaderi, T, S Keidel, J Pointon, L Appleton, M Brown, D Evans, and B Wordsworth. 2014. “Ankylosing Spondylitis Is Associated with the Anthrax Toxin Receptor 2 Gene (ANTXR2).” Annals of the Rheumatic Diseases 73 (11): 2054–58.
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