DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Ankylosing spondylitis. The EFO term ankylosing spondylitis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: ankylosing spondylitis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

JD Reveille, AM Sims, P Danoy, DM Evans, P Leo, JJ Pointon, R Jin, X Zhou, LA Bradbury, LH Appleton, JC Davis, L Diekman, T Doan, A Dowling, R Duan, EL Duncan, C Farrar, J Hadler, D Harvey, T Karaderi, R Mogg, E Pomeroy, K Pryce, J Taylor, L Savage, P Deloukas, V Kumanduri, L Peltonen, SM Ring, P Whittaker, E Glazov, GP Thomas, WP Maksymowych, RD Inman, MM Ward, MA Stone, MH Weisman, BP Wordsworth, MA Brown

TITLE:

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

JOURNAL:

Nature genetics Feb 2010, Vol 42, pp. 123-7

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 x 10(-19)) and 21q22 (rs2242944; P = 8.3 x 10(-20)), as well as in the genes ANTXR2 (rs4333130; P = 9.3 x 10(-8)) and IL1R2 (rs2310173; P = 4.8 x 10(-7)). We also replicated previously reported associations at IL23R (rs11209026; P = 9.1 x 10(-14)) and ERAP1 (rs27434; P = 5.3 x 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. PUBMED: 20062062
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