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

(2013) NATURE GENETICS. 45(7). p.730-738
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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.
Keywords
ENDOPLASMIC-RETICULUM, T-CELL, GENETIC SUSCEPTIBILITY, BEHCETS-DISEASE, COMMON, ERAP1, ACTIVATION, HLA CLASS-I, DISEASE SUSCEPTIBILITY LOCI, GENOME-WIDE ASSOCIATION

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Citation

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MLA
Cortes, Adrian et al. “Identification of Multiple Risk Variants for Ankylosing Spondylitis Through High-density Genotyping of Immune-related Loci.” NATURE GENETICS 45.7 (2013): 730–738. Print.
APA
Cortes, A., Hadler, J., Pointon, J. P., Robinson, P. C., Karaderi, T., Leo, P., Cremin, K., et al. (2013). Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. NATURE GENETICS, 45(7), 730–738.
Chicago author-date
Cortes, Adrian, Johanna Hadler, Jenny P Pointon, Philip C Robinson, Tugce Karaderi, Paul Leo, Katie Cremin, et al. 2013. “Identification of Multiple Risk Variants for Ankylosing Spondylitis Through High-density Genotyping of Immune-related Loci.” Nature Genetics 45 (7): 730–738.
Chicago author-date (all authors)
Cortes, Adrian, 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-Oñate, Consuelo Romero-Sánchez, 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, and Matthew A Brown. 2013. “Identification of Multiple Risk Variants for Ankylosing Spondylitis Through High-density Genotyping of Immune-related Loci.” Nature Genetics 45 (7): 730–738.
Vancouver
1.
Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. NATURE GENETICS. 2013;45(7):730–8.
IEEE
[1]
A. Cortes et al., “Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci,” NATURE GENETICS, vol. 45, no. 7, pp. 730–738, 2013.
@article{4208285,
  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.},
  author       = {Cortes, Adrian and Hadler, Johanna and Pointon, Jenny P and Robinson, Philip C and Karaderi, Tugce and Leo, Paul and Cremin, Katie and Pryce, Karena and Harris, Jessica and Lee, Seunghun and Joo, Kyung Bin and Shim, Seung-Cheol and Weisman, Michael and Ward, Michael and Zhou, Xiaodong and Garchon, Henri-Jean and Chiocchia, Gilles and Nossent, Johannes and Lie, Benedicte A and Førre, Øystein and Tuomilehto, Jaakko and Laiho, Kari and Jiang, Lei and Liu, Yu and Wu, Xin and Bradbury, Linda A and Elewaut, Dirk and Burgos-Vargas, Ruben and Stebbings, Simon and Appleton, Louise and Farrah, Claire and Lau, Jonathan and Kenna, Tony J and Haroon, Nigil and Ferreira, Manuel A and Yang, Jian and Mulero, Juan and Fernandez-Sueiro, Jose Luis and Gonzalez-Gay, Miguel A and Lopez-Larrea, Carlos and Deloukas, Panos and Donnelly, Peter and Bowness, Paul and Gafney, Karl and Gaston, Hill and Gladman, Dafna D and Rahman, Proton and Maksymowych, Walter P and Xu, Huji and Crusius, J Bart A and van der Horst-Bruinsma, Irene E and Chou, Chung-Tei and Valle-Oñate, Raphael and Romero-Sánchez, Consuelo and Hansen, Inger Myrnes and Pimentel-Santos, Fernando M and Inman, Robert D and Videm, Vibeke and Martin, Javier and Breban, Maxime and Reveille, John D and Evans, David M and Kim, Tae-Hwan and Wordsworth, Bryan Paul and Brown, Matthew A},
  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  keywords     = {ENDOPLASMIC-RETICULUM,T-CELL,GENETIC SUSCEPTIBILITY,BEHCETS-DISEASE,COMMON,ERAP1,ACTIVATION,HLA CLASS-I,DISEASE SUSCEPTIBILITY LOCI,GENOME-WIDE ASSOCIATION},
  language     = {eng},
  number       = {7},
  pages        = {730--738},
  title        = {Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci},
  url          = {http://dx.doi.org/10.1038/ng.2667},
  volume       = {45},
  year         = {2013},
}

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