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

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., Garchon, H. J., Chiocchia, G., Nossent, J., Lie, B. A., Førre, 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., Crusius, J. B. A., Van Der Horst-Bruinsma, I. E., Chou, C. T., Valle-Oñate, R., Romero-Sánchez, 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, 45(7), pp. 730-738.

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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.

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ID Code: 89291
Item Type: Journal Article
Refereed: Yes
Keywords: aminopeptidase, HLA B27 antigen, interleukin 23, major histocompatibility antigen class 1, ankylosing spondylitis, antigen presentation, article, controlled study, gene locus, genetic association, genotyping technique, haplotype, human, major clinical study, priority journal, protein processing, single nucleotide polymorphism, Alleles, Case-Control Studies, DNA Mutational Analysis, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Genotyping Techniques, High-Throughput Nucleotide Sequencing, HLA-B27 Antigen, Humans, Immune System Processes, Polymorphism, Single Nucleotide, Risk Factors, Spondylitis, Ankylosing
DOI: 10.1038/ng.2667
ISSN: 1061-4036
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2013 Nature America, Inc.
Deposited On: 20 Oct 2015 01:07
Last Modified: 21 Mar 2016 02:54

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