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

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The Australo-Anglo-American Spondyloarthritis Consortium (TASC)·2010·Nature Genetics

Abstract

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.

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Metadata

Authors
The Australo-Anglo-American Spondyloarthritis Consortium (TASC)
Venue
Nature Genetics
Published
2010-01-10
Volume
42
Issue
2
Pages
123-127
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2118434625
Cited by
668
References
3
FWCI
40.55
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. https://app.cochat.ai/papers/10.1038/ng.513
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The Australo-Anglo-American Spondyloarthritis Consortium (TASC). (2010). Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nature Genetics. https://doi.org/10.1038/ng.513

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