RGD Reference Report - Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. - Rat Genome Database

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

Authors: Evans, DM  Spencer, CC  Pointon, JJ  Su, Z  Harvey, D  Kochan, G  Oppermann, U  Dilthey, A  Pirinen, M  Stone, MA  Appleton, L  Moutsianas, L  Leslie, S  Wordsworth, T  Kenna, TJ  Karaderi, T  Thomas, GP  Ward, MM  Weisman, MH  Farrar, C  Bradbury, LA  Danoy, P  Inman, RD  Maksymowych, W  Gladman, D  Rahman, P  Morgan, A  Marzo-Ortega, H  Bowness, P  Gaffney, K  Gaston, JS  Smith, M  Bruges-Armas, J  Couto, AR  Sorrentino, R  Paladini, F  Ferreira, MA  Xu, H  Liu, Y  Jiang, L  Lopez-Larrea, C  Diaz-Pena, R  Lopez-Vazquez, A  Zayats, T  Band, G  Bellenguez, C  Blackburn, H  Blackwell, JM  Bramon, E  Bumpstead, SJ  Casas, JP  Corvin, A  Craddock, N  Deloukas, P  Dronov, S  Duncanson, A  Edkins, S  Freeman, C  Gillman, M  Gray, E  Gwilliam, R  Hammond, N  Hunt, SE  Jankowski, J  Jayakumar, A  Langford, C  Liddle, J  Markus, HS  Mathew, CG  McCann, OT  McCarthy, MI  Palmer, CN  Peltonen, L  Plomin, R  Potter, SC  Rautanen, A  Ravindrarajah, R  Ricketts, M  Samani, N  Sawcer, SJ  Strange, A  Trembath, RC  Viswanathan, AC  Waller, M  Weston, P  Whittaker, P  Widaa, S  Wood, NW  McVean, G  Reveille, JD  Wordsworth, BP  Brown, MA  Donnelly, P  Donnelly, Peter  Donnelly, Peter  Donnelly, Peter 
Citation: Evans DM, etal., Nat Genet. 2011 Jul 10;43(8):761-7. doi: 10.1038/ng.873.
RGD ID: 6483530
Pubmed: PMID:21743469   (View Abstract at PubMed)
PMCID: PMC3640413   (View Article at PubMed Central)
DOI: DOI:10.1038/ng.873   (Journal Full-text)

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 x 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 x 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
ankylosing spondylitis  IAGP 6483530 RGD 
ankylosing spondylitis  ISOPTGER4 (Homo sapiens)6483530; 6483530 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ptger4  (prostaglandin E receptor 4)

Genes (Mus musculus)
Ptger4  (prostaglandin E receptor 4 (subtype EP4))

Genes (Homo sapiens)
PTGER4  (prostaglandin E receptor 4)


Additional Information