Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.

Ellinghaus, David; Zhang, Hu; Zeissig, Sebastian; Lipinski, Simone; Till, Andreas; Jiang, Tao; Stade, Björn; Bromberg, Yana; Ellinghaus, Eva; Keller, Andreas; Rivas, Manuel A; Skieceviciene, Jurgita; Doncheva, Nadezhda T; Liu, Xiao; Liu, Qing; Jiang, Fuman; Forster, Michael; Mayr, Gabriele; Albrecht, Mario; Häsler, Robert; Boehm, Bernhard O; Goodall, Jane; Berzuini, Carlo R; Lee, James; Andersen, Vibeke; Vogel, Ulla; Kupcinskas, Limas; Kayser, Manfred; Krawczak, Michael; Nikolaus, Susanna; Weersma, Rinse K; Ponsioen, Cyriel Y; Sans, Miquel; Wijmenga, Cisca; Strachan, David P; McArdle, Wendy L; Vermeire, Séverine; Rutgeerts, Paul; Sanderson, Jeremy D; Mathew, Christopher G; Vatn, Morten H; Wang, Jun; Nöthen, Markus M; Duerr, Richard H; Büning, Carsten; Brand, Stephan; Glas, Jürgen; Winkelmann, Juliane; Illig, Thomas; Latiano, Anna

Ellinghaus, David; Zhang, Hu; Zeissig, Sebastian; Lipinski, Simone; Till, Andreas; Jiang, Tao; Stade, Björn; Bromberg, Yana; Ellinghaus, Eva; Keller, Andreas; Rivas, Manuel A; Skieceviciene, Jurgita; Doncheva, Nadezhda T; Liu, Xiao; Liu, Qing; Jiang, Fuman; Forster, Michael; Mayr, Gabriele; Albrecht, Mario; Häsler, Robert; Boehm, Bernhard O; Goodall, Jane; Berzuini, Carlo R; Lee, James; Andersen, Vibeke; Vogel, Ulla; Kupcinskas, Limas; Kayser, Manfred; Krawczak, Michael; Nikolaus, Susanna; Weersma, Rinse K; Ponsioen, Cyriel Y; Sans, Miquel; Wijmenga, Cisca; Strachan, David P; McArdle, Wendy L; Vermeire, Séverine; Rutgeerts, Paul; Sanderson, Jeremy D; Mathew, Christopher G; Vatn, Morten H; Wang, Jun; Nöthen, Markus M; Duerr, Richard H; Büning, Carsten; Brand, Stephan; Glas, Jürgen; Winkelmann, Juliane; Illig, Thomas; Latiano, Anna.

Afiliação

Ellinghaus D; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.

Gastroenterology ; 145(2): 339-47, 2013 Aug.

Article em En | MEDLINE | ID: mdl-23624108

Assuntos

Colite Ulcerativa/genética; Doença de Crohn/genética; Proteínas Nucleares/genética; Proteínas Repressoras/genética; Adolescente; Adulto; Estudos de Casos e Controles; Exoma/genética; Feminino; Predisposição Genética para Doença; Estudo de Associação Genômica Ampla; Humanos; Masculino; Mutação de Sentido Incorreto; Polimorfismo de Nucleotídeo Único; Fator 1 de Ligação ao Domínio I Regulador Positivo; Locos de Características Quantitativas; Adulto Jovem

Palavras-chave

CD; Complex Disease; Crohn's disease; GWAS; IBD; IFN; Inflammatory Bowel Disease; NF-κB; PBL; PBMC; SNP; SNV; TLR; Toll-like receptor; UC; WT; Whole-Exome Sequencing; eQTL; expression quantitative trait locus; genome-wide association studies; inflammatory bowel disease; interferon; nuclear factor κB; peripheral blood lymphocyte; peripheral blood mononuclear cell; qRT-PCR; quantitative reverse-transcription polymerase chain reaction; single nucleotide polymorphism; single nucleotide variant; ulcerative colitis; wild-type

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Proteínas Nucleares / Colite Ulcerativa / Doença de Crohn Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2013 Tipo de documento: Article

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