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DOI 10.1038/ng.2667

Медицинская библиотека · Nature genetics · 2013

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

International Genetics of Ankylosing Spondylitis Consortium (IGAS), 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, 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), 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

СтатьяПоддержка NIH: внешняя программаResearch Support, N.I.H., IntramuralПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: International Genetics of Ankylosing Spondylitis Consortium (IGAS), 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, 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), 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. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.. Nature genetics. 2013. DOI: 10.1038/ng.2667.

Предметные рубрики MeSH

AllelesCase-Control StudiesDNA Mutational AnalysisGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeGenotyping TechniquesHLA-B27 AntigenHigh-Throughput Nucleotide SequencingHumansImmune System PhenomenaPolymorphism, Single NucleotideRisk FactorsSpondylitis, Ankylosing
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