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

Reveille, John D., Sims, Anne-Marie, Danoy, Patrick, Evans, David M., Leo, Paul, Pointon, Jennifer J., Jin, Rui, Zhou, Xiaodong, Bradbury, Linda A., Appleton, Louise H., Davis, John C., Diekman, Laura, Doan, Tracey, Dowling, Alison, Duan, Ran, Duncan, Emma L., Farrar, Claire, Hadler, Johanna, Harvey, David, Karaderi, Tugce, Mogg, Rebecca, Pomeroy, Emma, Pryce, Karena, Taylor, Jacqueline, Savage, Laurie, Deloukas, Panos, Kumanduri, Vasudev, Peltonen, Leena, Ring, Sue M., Whittaker, Pamela, Glazov, Evgeny, Thomas, Gethin P., Maksymowych, Walter P., Inman, Robert D., Ward, Michael M., Stone, Millicent A., Weisman, Michael H., Wordsworth, B. Paul and Brown, Mathew A. (2010) Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nature Genetics, 42 2: 123-127. doi:10.1038/ng.513

Author Reveille, John D.
Sims, Anne-Marie
Danoy, Patrick
Evans, David M.
Leo, Paul
Pointon, Jennifer J.
Jin, Rui
Zhou, Xiaodong
Bradbury, Linda A.
Appleton, Louise H.
Davis, John C.
Diekman, Laura
Doan, Tracey
Dowling, Alison
Duan, Ran
Duncan, Emma L.
Farrar, Claire
Hadler, Johanna
Harvey, David
Karaderi, Tugce
Mogg, Rebecca
Pomeroy, Emma
Pryce, Karena
Taylor, Jacqueline
Savage, Laurie
Deloukas, Panos
Kumanduri, Vasudev
Peltonen, Leena
Ring, Sue M.
Whittaker, Pamela
Glazov, Evgeny
Thomas, Gethin P.
Maksymowych, Walter P.
Inman, Robert D.
Ward, Michael M.
Stone, Millicent A.
Weisman, Michael H.
Wordsworth, B. Paul
Brown, Mathew A.
Title Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2010-02
Sub-type Article (original research)
DOI 10.1038/ng.513
Volume 42
Issue 2
Start page 123
End page 127
Total pages 5
Place of publication New York, NY, United States
Publisher Nature Publishing Group (NPG)
Collection year 2011
Language eng
Subject 1114 Paediatrics and Reproductive Medicine
1103 Clinical Sciences
Formatted 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.
Keyword Cohort studies
Genetic loci
Genetic predisposition to disease
Major histocompatibility complex
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 271 times in Thomson Reuters Web of Science Article | Citations
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Created: Sun, 21 Feb 2010, 00:02:33 EST