Title
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
Link to article in PubMed
Author(s)
Cortes, Adrian
Hadler, Johanna
Pointon, Jenny
Robinson, Philip
Karaderi, Tugce
Leo, Paul
Cremin, Katie
Pryce, Karena
Harris, Jessica
Lee, Seunghun
Joo, Kyung Bin
Shim, Seung-Cheol
Weisman, Michael
Ward, Michael
Zhou, Xiaodong
Garchon, Henri-Jean
Chiocchia, Gilles
Nossent, Johannes
Lie, Benedicte
Førre, Øystein
Tuomilehto, Jaakko
Laiho, Kari
Jiang, Lei
Liu, Yu
Wu, Xin
Bradbury, Linda
Elewaut, Dirk
Burgos-Vargas, Ruben
Stebbings, Simon
Appleton, Louise
Farrah, Claire
Lau, Jonathan
Kenna, Tony
Haroon, Nigil
Ferreira, Manuel
Yang, Jian
Mulero, Juan
Fernandez-Sueiro, Jose Luis
Gonzalez-Gay, Miguel A
Lopez-Larrea, Carlos
Deloukas, Panos
Donnelly, Peter
Bowness, Paul
Gafney, Karl
Gaston, Hill
Gladman, Dafna
Rahman, Proton
Maksymowych, Walter
Xu, Huji
Crusius, J Bart A
van der Horst-Bruinsma, Irene E
Chou, Chung-Tei
Valle-Oñate, Raphael
Romero-Sánchez, Consuelo
Hansen, Inger Myrnes
Pimentel-Santos, Fernando M
Inman, Robert D
Videm, Vibeke
Martin, Javier
Breban, Maxime
Reveille, John D
Evans, David M
Kim, Tae-Hwan
Wordsworth, Bryan Paul
Brown, Matthew
Abstract
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 function and with MHC class I cell surface expression.
Publication information
Nat Genet. 2013 Jul;45(7):730-8. doi: 10.1038/ng.2667. Epub 2013 Jun 9.
Date Issued
2013-07-01
Type
Journal Article
MESH Subject
Journal Title
Nature genetics
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