Authors
Australo-Anglo-American Spondyloarthritis Consortium (TASC), Wellcome Trust Case Control Consortium 2 (WTCCC2), David M Evans, Chris CA Spencer, Jennifer J Pointon, Zhan Su, David Harvey, Grazyna Kochan, Udo Oppermann, Alexander Dilthey, Matti Pirinen, Millicent A Stone, Louise Appleton, Loukas Moutsianas, Stephen Leslie, Tom Wordsworth, Tony J Kenna, Tugce Karaderi, Gethin P Thomas, Michael M Ward, Michael H Weisman, Claire Farrar, Linda A Bradbury, Patrick Danoy, Robert D Inman, Walter Maksymowych, Dafna Gladman, Proton Rahman, Spondyloarthritis Research Consortium of Canada (SPARCC), Ann Morgan, Helena Marzo-Ortega, Paul Bowness, Karl Gaffney, JS Hill Gaston, Malcolm Smith, Jacome Bruges-Armas, Ana-Rita Couto, Rosa Sorrentino, Fabiana Paladini, Manuel A Ferreira, Huji Xu, Yu Liu, Lei Jiang, Carlos Lopez-Larrea, Roberto Díaz-Peña, Antonio López-Vázquez, Tetyana Zayats, Gavin Band, Céline Bellenguez, Hannah Blackburn, Jenefer M Blackwell, Elvira Bramon, Suzannah J Bumpstead, Juan P Casas, Aiden Corvin, Nicholas Craddock, Panos Deloukas, Serge Dronov, Audrey Duncanson, Sarah Edkins, Colin Freeman, Matthew Gillman, Emma Gray, Rhian Gwilliam, Naomi Hammond, Sarah E Hunt, Janusz Jankowski, Alagurevathi Jayakumar, Cordelia Langford, Jennifer Liddle, Hugh S Markus, Christopher G Mathew, Owen T McCann, Mark I McCarthy, Colin NA Palmer, Leena Peltonen, Robert Plomin, Simon C Potter, Anna Rautanen, Radhi Ravindrarajah, Michelle Ricketts, Nilesh Samani, Stephen J Sawcer, Amy Strange, Richard C Trembath, Ananth C Viswanathan, Matthew Waller, Paul Weston, Pamela Whittaker, Sara Widaa, Nicholas W Wood, Gilean McVean, John D Reveille, B Paul Wordsworth, Matthew A Brown, Peter Donnelly
Publication date
2011/8
Journal
Nature genetics
Volume
43
Issue
8
Pages
761-767
Publisher
Nature Publishing Group US
Description
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 …
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