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ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy
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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573113/ https://www.ncbi.nlm.nih.gov/pubmed/23459209 http://dx.doi.org/10.1371/journal.pgen.1003270 |
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| author | Faraco, Juliette Lin, Ling Kornum, Birgitte Rahbek Kenny, Eimear E. Trynka, Gosia Einen, Mali Rico, Tom J. Lichtner, Peter Dauvilliers, Yves Arnulf, Isabelle Lecendreux, Michel Javidi, Sirous Geisler, Peter Mayer, Geert Pizza, Fabio Poli, Francesca Plazzi, Giuseppe Overeem, Sebastiaan Lammers, Gert Jan Kemlink, David Sonka, Karel Nevsimalova, Sona Rouleau, Guy Desautels, Alex Montplaisir, Jacques Frauscher, Birgit Ehrmann, Laura Högl, Birgit Jennum, Poul Bourgin, Patrice Peraita-Adrados, Rosa Iranzo, Alex Bassetti, Claudio Chen, Wei-Min Concannon, Patrick Thompson, Susan D. Damotte, Vincent Fontaine, Bertrand Breban, Maxime Gieger, Christian Klopp, Norman Deloukas, Panos Wijmenga, Cisca Hallmayer, Joachim Onengut-Gumuscu, Suna Rich, Stephen S. Winkelmann, Juliane Mignot, Emmanuel |
| author_facet | Faraco, Juliette Lin, Ling Kornum, Birgitte Rahbek Kenny, Eimear E. Trynka, Gosia Einen, Mali Rico, Tom J. Lichtner, Peter Dauvilliers, Yves Arnulf, Isabelle Lecendreux, Michel Javidi, Sirous Geisler, Peter Mayer, Geert Pizza, Fabio Poli, Francesca Plazzi, Giuseppe Overeem, Sebastiaan Lammers, Gert Jan Kemlink, David Sonka, Karel Nevsimalova, Sona Rouleau, Guy Desautels, Alex Montplaisir, Jacques Frauscher, Birgit Ehrmann, Laura Högl, Birgit Jennum, Poul Bourgin, Patrice Peraita-Adrados, Rosa Iranzo, Alex Bassetti, Claudio Chen, Wei-Min Concannon, Patrick Thompson, Susan D. Damotte, Vincent Fontaine, Bertrand Breban, Maxime Gieger, Christian Klopp, Norman Deloukas, Panos Wijmenga, Cisca Hallmayer, Joachim Onengut-Gumuscu, Suna Rich, Stephen S. Winkelmann, Juliane Mignot, Emmanuel |
| author_sort | Faraco, Juliette |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-3573113 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2013 |
| publisher | Public Library of Science |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-35731132013-03-01 ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy Faraco, Juliette Lin, Ling Kornum, Birgitte Rahbek Kenny, Eimear E. Trynka, Gosia Einen, Mali Rico, Tom J. Lichtner, Peter Dauvilliers, Yves Arnulf, Isabelle Lecendreux, Michel Javidi, Sirous Geisler, Peter Mayer, Geert Pizza, Fabio Poli, Francesca Plazzi, Giuseppe Overeem, Sebastiaan Lammers, Gert Jan Kemlink, David Sonka, Karel Nevsimalova, Sona Rouleau, Guy Desautels, Alex Montplaisir, Jacques Frauscher, Birgit Ehrmann, Laura Högl, Birgit Jennum, Poul Bourgin, Patrice Peraita-Adrados, Rosa Iranzo, Alex Bassetti, Claudio Chen, Wei-Min Concannon, Patrick Thompson, Susan D. Damotte, Vincent Fontaine, Bertrand Breban, Maxime Gieger, Christian Klopp, Norman Deloukas, Panos Wijmenga, Cisca Hallmayer, Joachim Onengut-Gumuscu, Suna Rich, Stephen S. Winkelmann, Juliane Mignot, Emmanuel PLoS Genet Research Article 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. Public Library of Science 2013-02-14 /pmc/articles/PMC3573113/ /pubmed/23459209 http://dx.doi.org/10.1371/journal.pgen.1003270 Text en © 2013 Faraco et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
| spellingShingle | Research Article Faraco, Juliette Lin, Ling Kornum, Birgitte Rahbek Kenny, Eimear E. Trynka, Gosia Einen, Mali Rico, Tom J. Lichtner, Peter Dauvilliers, Yves Arnulf, Isabelle Lecendreux, Michel Javidi, Sirous Geisler, Peter Mayer, Geert Pizza, Fabio Poli, Francesca Plazzi, Giuseppe Overeem, Sebastiaan Lammers, Gert Jan Kemlink, David Sonka, Karel Nevsimalova, Sona Rouleau, Guy Desautels, Alex Montplaisir, Jacques Frauscher, Birgit Ehrmann, Laura Högl, Birgit Jennum, Poul Bourgin, Patrice Peraita-Adrados, Rosa Iranzo, Alex Bassetti, Claudio Chen, Wei-Min Concannon, Patrick Thompson, Susan D. Damotte, Vincent Fontaine, Bertrand Breban, Maxime Gieger, Christian Klopp, Norman Deloukas, Panos Wijmenga, Cisca Hallmayer, Joachim Onengut-Gumuscu, Suna Rich, Stephen S. Winkelmann, Juliane Mignot, Emmanuel ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy |
| title | ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy |
| title_full | ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy |
| title_fullStr | ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy |
| title_full_unstemmed | ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy |
| title_short | ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy |
| title_sort | immunochip study implicates antigen presentation to t cells in narcolepsy |
| topic | Research Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573113/ https://www.ncbi.nlm.nih.gov/pubmed/23459209 http://dx.doi.org/10.1371/journal.pgen.1003270 |
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