Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
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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.
In: Nature Genetics, Vol. 45, No. 7, 01.07.2013, p. 730-738.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
AU - Cortes, Adrian
AU - Hadler, Johanna
AU - Pointon, Jenny P.
AU - Robinson, Philip C.
AU - Karaderi, Tugce
AU - Leo, Paul
AU - Cremin, Katie
AU - Pryce, Karena
AU - Harris, Jessica
AU - Lee, Seunghun
AU - Joo, Kyung Bin
AU - Shim, Seung Cheol
AU - Weisman, Michael
AU - Ward, Michael
AU - Zhou, Xiaodong
AU - Garchon, Henri Jean
AU - Chiocchia, Gilles
AU - Nossent, Johannes
AU - Lie, Benedicte A.
AU - Førre, Øystein
AU - Tuomilehto, Jaakko
AU - Laiho, Kari
AU - Jiang, Lei
AU - Liu, Yu
AU - Wu, Xin
AU - Bradbury, Linda A.
AU - Elewaut, Dirk
AU - Burgos-Vargas, Ruben
AU - Stebbings, Simon
AU - Appleton, Louise
AU - Farrah, Claire
AU - Lau, Jonathan
AU - Kenna, Tony J.
AU - Haroon, Nigil
AU - Ferreira, Manuel A.
AU - Yang, Jian
AU - Mulero, Juan
AU - Fernandez-Sueiro, Jose Luis
AU - Gonzalez-Gay, Miguel A.
AU - Lopez-Larrea, Carlos
AU - Deloukas, Panos
AU - Donnelly, Peter
AU - Bowness, Paul
AU - Gafney, Karl
AU - Gaston, Hill
AU - Gladman, Dafna D.
AU - Rahman, Proton
AU - Maksymowych, Walter P.
AU - Xu, Huji
AU - Crusius, J. Bart A.
PY - 2013/7/1
Y1 - 2013/7/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84879691837&partnerID=8YFLogxK
U2 - 10.1038/ng.2667
DO - 10.1038/ng.2667
M3 - Journal article
C2 - 23749187
AN - SCOPUS:84879691837
VL - 45
SP - 730
EP - 738
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 7
ER -
ID: 226396293