作者
Adrian Cortes, Johanna Hadler, Jenny P Pointon, Philip C Robinson, Tugce Karaderi, Paul Leo, Katie Cremin, Karena Pryce, Jessica Harris, Seunghun Lee, Kyung Bin Joo, Seung-Cheol Shim, Michael Weisman, Michael Ward, Xiaodong Zhou, Henri-Jean Garchon, Gilles Chiocchia, Johannes Nossent, Benedicte A Lie, Øystein Førre, Jaakko Tuomilehto, Kari Laiho, Lei Jiang, Yu Liu, Xin Wu, Linda A Bradbury, Dirk Elewaut, Ruben Burgos-Vargas, Simon Stebbings, Louise Appleton, Claire Farrah, Jonathan Lau, Tony J Kenna, Nigil Haroon, Manuel A Ferreira, Jian Yang, Juan Mulero, Jose Luis Fernandez-Sueiro, Miguel A Gonzalez-Gay, Carlos Lopez-Larrea, Panos Deloukas, Peter Donnelly, Paul Bowness, Karl Gafney, Hill Gaston, Dafna D Gladman, Proton Rahman, Walter P Maksymowych, Huji Xu, J Bart A Crusius, Irene E van der Horst-Bruinsma, Chung-Tei Chou, Raphael Valle-Onate, Consuelo Romero-Sanchez, Inger Myrnes Hansen, Fernando M Pimentel-Santos, Robert D Inman, Vibeke Videm, Javier Martin, Maxime Breban, John D Reveille, David M Evans, Tae-Hwan Kim, Bryan Paul Wordsworth, Matthew A Brown, International Genetics of Ankylosing Spondylitis Consortium
发表日期
2013/7
期刊
Nature genetics
卷号
45
期号
7
页码范围
730
出版商
Nature Publishing Group
简介
Ankylosing spondylitis is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. In addition to HLA-B*27 alleles, 12 loci have previously been identified that are associated with ankylosing spondylitis in populations of European ancestry, and 2 associated loci have been identified in Asians. In this study, we used the Illumina Immunochip microarray to perform a case-control association study involving 10,619 individuals with ankylosing spondylitis (cases) and 15,145 controls. We identified 13 new risk loci and 12 additional ankylosing spondylitis–associated haplotypes at 11 loci. Two ankylosing spondylitis–associated regions have now been identified encoding four aminopeptidases that are involved in peptide processing before major histocompatibility complex (MHC) class I presentation. Protective variants at two of these loci are associated both with reduced aminopeptidase …
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