Faraco, Juliette and Lin, Ling and Kornum, Birgitte Rahbek and Kenny, Eimear E. and Trynka, Gosia and Einen, Mali and Rico, Tom J. and Lichtner, Peter and Dauvilliers, Yves and Arnulf, Isabelle and Lecendreux, Michel and Javidi, Sirous and Geisler, Peter and Mayer, Geert and Pizza, Fabio and Poli, Francesca and Plazzi, Giuseppe and Overeem, Sebastiaan and Lammers, Gert Jan and Kemlink, David and Sonka, Karel and Nevsimalova, Sona and Rouleau, Guy and Desautels, Alex and Montplaisir, Jacques and Frauscher, Birgit and Ehrmann, Laura and Hoegl, Birgit and Jennum, Poul and Bourgin, Patrice and Peraita-Adrados, Rosa and Iranzo, Alex and Bassetti, Claudio and Chen, Wei-Min and Concannon, Patrick and Thompson, Susan D. and Damotte, Vincent and Fontaine, Bertrand and Breban, Maxime and Gieger, Christian and Klopp, Norman and Deloukas, Panos and Wijmenga, Cisca and Hallmayer, Joachim and Onengut-Gumuscu, Suna and Rich, Stephen S. and Winkelmann, Juliane and Mignot, Emmanuel (2013) ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy. PLOS GENETICS, 9 (2): e1003270. ISSN 1553-7404,
Full text not available from this repository. (Request a copy)Abstract
Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis for narcolepsy/hypocretin (orexin) deficiency. We genotyped loci associated with other autoimmune and inflammatory diseases in 1,886 individuals with hypocretin-deficient narcolepsy and 10,421 controls, all of European ancestry, using a custom genotyping array (ImmunoChip). Three loci located outside the Human Leukocyte Antigen (HLA) region on chromosome 6 were significantly associated with disease risk. In addition to a strong signal in the T cell receptor alpha (TRA@), variants in two additional narcolepsy loci, Cathepsin H (CTSH) and Tumor necrosis factor (ligand) superfamily member 4 (TNFSF4, also called OX40L), attained genome-wide significance. These findings underline the importance of antigen presentation by HLA Class II to T cells in the pathophysiology of this autoimmune disease.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GENOME-WIDE ASSOCIATION; CONFERS SUSCEPTIBILITY; HAPLOTYPE; RISK; LOCI; POLYMORPHISM; METAANALYSIS; DISEASES; OX40L; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Psychiatrie und Psychotherapie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 24 Apr 2020 08:25 |
| Last Modified: | 24 Apr 2020 08:25 |
| URI: | https://pred.uni-regensburg.de/id/eprint/17182 |
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