Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
| Autor: | Peter Donnelly, Tugce Karaderi, Dafna D. Gladman, Shim S-C., Karl Gafney, Crusius Jba., J Mulero, Karena Pryce, Proton Rahman, Louise Appleton, Matthew A. Brown, Johanna Hadler, Vibeke Videm, R. Valle-Oñate, Jian Yang, Consuelo Romero-Sánchez, José Luis Fernández-Sueiro, Tony J. Kenna, Øystein Førre, Inger Myrnes Hansen, Hill Gaston, Lei Jiang, David M. Evans, Huji Xu, B P Wordsworth, Jessica Harris, Kim T-H., Panagiotis Deloukas, Gilles Chiocchia, Simon Stebbings, Benedicte A. Lie, Minghong Ward, Adrian Cortes, Javier Martín, J. D. Reveille, Philip Robinson, Maxime Breban, Michael H. Weisman, Dirk Elewaut, Walter P. Maksymowych, Xiaodong Zhou, Garchon H-J., Johannes C. Nossent, Yu Liu, Xin Wu, Nigil Haroon, J. Tuomilehto, Claire Farrah, Fernando Pimentel-Santos, Paul Leo, Miguel A. Gonzalez-Gay, J.P. Pointon, Paul Bowness, Carlos López-Larrea, Kyung Bin Joo, Ruben Burgos-Vargas, I E van der Horst-Bruinsma, Manuel A. R. Ferreira, K. Laiho, Sang-Gug Lee, Robert D. Inman, Katie Cremin, Chou C-T., J. Lau, Linda A. Bradbury |
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| Přispěvatelé: | Rheumatology, CCA - Disease profiling, Medical Microbiology and Infection Prevention |
| Rok vydání: | 2012 |
| Předmět: |
HLA CLASS-I
GENETIC SUSCEPTIBILITY Genotype Genotyping Techniques DISEASE SUSCEPTIBILITY LOCI DNA Mutational Analysis ENDOPLASMIC-RETICULUM Genome-wide association study medicine.disease_cause Major histocompatibility complex T-CELL ERAP1 Polymorphism Single Nucleotide Article Autoimmunity ACTIVATION Immune System Phenomena Risk Factors Genetics medicine Medicine and Health Sciences Humans Genetic Predisposition to Disease Spondylitis Ankylosing GENOME-WIDE ASSOCIATION Spondylitis Genotyping COMMON Alleles HLA-B27 Antigen Ankylosing spondylitis BEHCETS-DISEASE biology Haplotype High-Throughput Nucleotide Sequencing medicine.disease Endoplasmic reticulum aminopeptidase 2 Genetic Loci Case-Control Studies Immunology biology.protein Genome-Wide Association Study |
| Zdroj: | Nature Genetics, 45(7), 730-738. Nature Publishing Group NATURE GENETICS Cortes, A, Hadler, J, Pointon, J P, Robinson, P C, Karaderi, T, Leo, P, Cremin, K, Pryce, K, Harris, J, Lee, S, Joo, K B, Shim, S C, Weisman, M, Ward, M, Zhou, X D, Garchon, H J, Chiocchia, G, Nossent, J, Lie, B A, Forre, O, Tuomilehto, J, Laiho, K, Jiang, L, Liu, Y, Wu, X, Bradbury, L A, Elewaut, D, Burgos-Vargas, R, Stebbings, S, Appleton, L, Farrah, C, Lau, J, Kenna, T J, Haroon, N, Ferreira, M A, Yang, J, Mulero, J, Fernandez-Sueiro, J L, Gonzalez-Gay, M A, Lopez-Larrea, C, Deloukas, P, Donnelly, P, Bowness, P, Gafney, K, Gaston, H, Gladman, D D, Rahman, P, Maksymowych, W P, Xu, H J, Crusius, J B A, van der Horst-Bruinsma, I E, Chou, C T, Valle-Onate, R, Romero-Sanchez, C, Hansen, I M, Pimentel-Santos, F M, Inman, R D, Videm, V, Martin, J, Breban, M, Reveille, J D, Evans, D M, Kim, T H, Wordsworth, B P & Brown, M A 2013, ' 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 . https://doi.org/10.1038/ng.2667 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng.2667 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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