Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2

التفاصيل البيبلوغرافية
العنوان: Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2
المؤلفون: Manfred Kunz, James T. Elder, Yun Li, Christian Gieger, Stephan Weidinger, Ulrich Mrowietz, Dafna D. Gladman, Tom H. Karlsen, Eva Ellinghaus, Gonçalo R. Abecasis, Bernadette Eberlein, Claudia Reinhard, Trilokraj Tejasvi, Sophie Debrus, John J. Voorhees, Philip E. Stuart, Stefan Schreiber, Sylviane Lambert, Gabriele Mayr, Johann E. Gudjonsson, Mario Albrecht, Majid Belouchi, Rajan P. Nair, Michael Weichenthal, Dieter Kabelitz, Andre Franke, H.-Erich Wichmann, Jun Ding, Stefan W. Stoll, Proton Rahman, John Verner Raelson, David Ellinghaus, Helene Fournier
المصدر: Nature Genetics. 42:991-995
بيانات النشر: Springer Science and Business Media LLC, 2010.
سنة النشر: 2010
مصطلحات موضوعية: Genotype, Arthritis, Locus (genetics), Single-nucleotide polymorphism, Genome-wide association study, HLA-C Antigens, Biology, Polymorphism, Single Nucleotide, White People, Article, Psoriatic arthritis, Germany, Psoriasis, Diseases in Twins, Genetics, medicine, Humans, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Genetic association, Interleukins, Siblings, Arthritis, Psoriatic, medicine.disease, Tumor Necrosis Factor Receptor-Associated Peptides and Proteins, Immunology, Chromosomes, Human, Pair 6, Genome-Wide Association Study
الوصف: Andre Franke and colleagues report a genome-wide association study for psoriasis vulgaris in a German cohort with replication in German and North American psoriasis cohorts. They identify variants in TRAF3IP2, encoding a protein involved in IL-17 mediated T-cell immune response, associated with psoriasis. Psoriasis is a multifactorial skin disease characterized by epidermal hyperproliferation and chronic inflammation, the most common form of which is psoriasis vulgaris (PsV). We present a genome-wide association analysis of 2,339,118 SNPs in 472 PsV cases and 1,146 controls from Germany, with follow-up of the 147 most significant SNPs in 2,746 PsV cases and 4,140 controls from three independent replication panels. We identified an association at TRAF3IP2 on 6q21 and genotyped two SNPs at this locus in two additional replication panels (the combined discovery and replication panels consisted of 6,487 cases and 8,037 controls; combined P = 2.36 × 10−10 for rs13210247 and combined P = 1.24 × 10−16 for rs33980500). About 15% of psoriasis cases develop psoriatic arthritis (PsA). A stratified analysis of our datasets including only PsA cases (1,922 cases compared to 8,037 controls, P = 4.57 × 10−12 for rs33980500) suggested that TRAF3IP2 represents a shared susceptibility for PsV and PsA. TRAF3IP2 encodes a protein involved in IL-17 signaling and which interacts with members of the Rel/NF-κB transcription factor family.
تدمد: 1546-1718
1061-4036
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56c7505beda741be8f2d5499e2003ac
https://doi.org/10.1038/ng.689
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....e56c7505beda741be8f2d5499e2003ac
قاعدة البيانات: OpenAIRE