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:

2024-04-25

SPECIES:

AUTHORS:

DM Evans, CC Spencer, JJ Pointon, Z Su, D Harvey, G Kochan, U Oppermann, U Opperman, A Dilthey, M Pirinen, MA Stone, L Appleton, L Moutsianas, L Moutsianis, S Leslie, T Wordsworth, TJ Kenna, T Karaderi, GP Thomas, MM Ward, MH Weisman, C Farrar, LA Bradbury, P Danoy, RD Inman, W Maksymowych, D Gladman, P Rahman, A Morgan, H Marzo-Ortega, P Bowness, K Gaffney, JS Gaston, M Smith, J Bruges-Armas, AR Couto, R Sorrentino, F Paladini, MA Ferreira, H Xu, Y Liu, L Jiang, C Lopez-Larrea, R Díaz-Peña, A López-Vázquez, T Zayats, G Band, C Bellenguez, H Blackburn, JM Blackwell, E Bramon, SJ Bumpstead, JP Casas, A Corvin, N Craddock, P Deloukas, S Dronov, A Duncanson, S Edkins, C Freeman, M Gillman, E Gray, R Gwilliam, N Hammond, SE Hunt, J Jankowski, A Jayakumar, C Langford, J Liddle, HS Markus, CG Mathew, OT McCann, MI McCarthy, CN Palmer, L Peltonen, R Plomin, SC Potter, A Rautanen, R Ravindrarajah, M Ricketts, N Samani, SJ Sawcer, A Strange, RC Trembath, AC Viswanathan, M Waller, P Weston, P Whittaker, S Widaa, NW Wood, G McVean, JD Reveille, BP Wordsworth, MA Brown, P Donnelly

TITLE:

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

JOURNAL:

Nature genetics Jul 2011, Vol 43, pp. 761-7

ABSTRACT:

Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10(-6) overall, with support in each of the three datasets studied). We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27-positive individuals. These findings provide strong evidence that HLA-B27 operates in ankylosing spondylitis through a mechanism involving aberrant processing of antigenic peptides. PUBMED: 21743469
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