Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci

Cortes, Adrian, Hadler, Johanna, Pointon, Jenny P., Robinson, Philip C., 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 A., Førre, Øystein, Tuomilehto, Jaakko, Laiho, Kari, Jiang, Lei, Liu, Yu, Wu, Xin, Bradbury, Linda A., Elewaut, Dirk, Burgos-Vargas, Ruben, Stebbings, Simon, Appleton, Louise, Farrah, Claire, Lau, Jonathan, Kenna, Tony J., Haroon, Nigil, Ferreira, Manuel A., 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 D., Rahman, Proton, Maksymowych, Walter P., 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 A., Australo-Anglo-American Spondyloarthritis Consortium (TASC), Groupe Française d?Etude Génétique des Spondylarthrites (GFEGS), Nord-Trøndelag Health Study (HUNT), Spondyloarthritis Research Consortium of Canada (SPARCC) and Wellcome Trust Case Control Consortium 2 (WTCCC2) (2013) Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nature Genetics, 45 7: 730-740. doi:10.1038/ng.2667


Author Cortes, Adrian
Hadler, Johanna
Pointon, Jenny P.
Robinson, Philip C.
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 A.
Førre, Øystein
Tuomilehto, Jaakko
Laiho, Kari
Jiang, Lei
Liu, Yu
Wu, Xin
Bradbury, Linda A.
Elewaut, Dirk
Burgos-Vargas, Ruben
Stebbings, Simon
Appleton, Louise
Farrah, Claire
Lau, Jonathan
Kenna, Tony J.
Haroon, Nigil
Ferreira, Manuel A.
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 D.
Rahman, Proton
Maksymowych, Walter P.
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 A.
Australo-Anglo-American Spondyloarthritis Consortium (TASC)
Groupe Française d?Etude Génétique des Spondylarthrites (GFEGS)
Nord-Trøndelag Health Study (HUNT)
Spondyloarthritis Research Consortium of Canada (SPARCC)
Wellcome Trust Case Control Consortium 2 (WTCCC2)
Total Author Count Override 70
Title Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
1546-1718
Publication date 2013-07
Sub-type Article (original research)
DOI 10.1038/ng.2667
Open Access Status
Volume 45
Issue 7
Start page 730
End page 740
Total pages 11
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Collection year 2014
Language eng
Formatted 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.
Keyword Genome-wide association
Disease susceptibility loci
HLA class-I
T-cell
Endoplasmic-reticulum
Genetic susceptibility
Behcets-disease
Common
ERAP1
Activation
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
UQ Diamantina Institute Publications
 
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