@article{98d8e38df16c460e92f22d45d4b8402a,
title = "Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility",
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 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.",
author = "{The Australo-Anglo-American Spondyloarthritis Consortium (TASC)} and {The Wellcome Trust Case Control Consortium 2 (WTCCC2)} and Evans, {D M} and Spencer, {C C A} and Pointon, {J J} and Z Su and D Harvey and G Kochan and U Opperman and A Dilthey and M Pirinen and Stone, {Millicent A} and L Appleton and L Moutsianis and S Leslie and T Wordsworth and Kenna, {T J} and T Karaderi and Thomas, {G P} and Ward, {M M} and Weisman, {M H} and C Farrar and Bradbury, {L A} and P Danoy and Inman, {R D} and W Maksymowych and D Gladman and P Rahman and {Spondyloarthritis Research Consortium of Canada (SPARCC)} and A Morgan and H Marzo-Ortega and P Bowness and K Gaffney and Gaston, {J S H} and M Smith and J Bruges-Armas and Couto, {A R} and R Sorrentino and F Paladini and Ferreira, {M A} and Xu, {H J} and Y Liu and L Jiang and C Lopez-Larrea and R Diaz-Pena and A Lopez-Vazquez and T Zayats and G Band and C Bellenguez and H Blackburn and Blackwell, {J M} and E Bramon and Bumpstead, {S J}",
year = "2011",
month = aug,
doi = "10.1038/ng.873",
language = "English",
volume = "43",
pages = "761--767",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Research",
number = "8",
}