ImmunoChip study implicates antigen presentation to T cells in narcolepsy

Juliette Faraco; Ling Lin; Birgitte Rahbek Kornum; Eimear E Kenny; Gosia Trynka; Mali Einen; Tom J Rico; Peter Lichtner; Yves Dauvilliers; Isabelle Arnulf; Michel Lecendreux; Sirous Javidi; Peter Geisler; Geert Mayer; Fabio Pizza; Francesca Poli; Giuseppe Plazzi; Sebastiaan Overeem; Gert Jan Lammers; David Kemlink; Karel Sonka; Sona Nevsimalova; Guy Rouleau; Alex Desautels; Jacques Montplaisir; Birgit Frauscher; Laura Ehrmann; Birgit Högl; Poul Jennum; Patrice Bourgin; Rosa Peraita-Adrados; Alex Iranzo; Claudio Bassetti; Wei-Min Chen; Patrick Concannon; Susan D Thompson; Vincent Damotte; Bertrand Fontaine; Maxime Breban; Christian Gieger; Norman Klopp; Panos Deloukas; Cisca Wijmenga; Joachim Hallmayer; Suna Onengut-Gumuscu; Stephen S Rich; Juliane Winkelmann; Emmanuel Mignot

doi:10.1371/journal.pgen.1003270

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ImmunoChip study implicates antigen presentation to T cells in narcolepsy

Journal article

Peer reviewed

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

Juliette Faraco, Ling Lin, Birgitte Rahbek Kornum, Eimear E Kenny, Gosia Trynka, Mali Einen, Tom J Rico, Peter Lichtner, Yves Dauvilliers, Isabelle Arnulf, …

PLoS Genetics, Vol.9 (2)(Art n°e1003270)

14/02/2013

DOI: https://doi.org/10.1371/journal.pgen.1003270

Abstract

Haplotypes

Europe

Autoimmune diseases

Cytokines

T cell receptors

T cells

Genetic loci

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 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.

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Title: ImmunoChip study implicates antigen presentation to T cells in narcolepsy
Creators - without role: Juliette Faraco - Stanford University
Ling Lin - Stanford University
Birgitte Rahbek Kornum - University of Copenhagen
Eimear E Kenny - Palo Alto University
Gosia Trynka - University Medical Center Groningen
Mali Einen - Stanford University
Tom J Rico - Stanford University
Peter Lichtner - Helmholtz Zentrum München
Yves Dauvilliers - Hôpital Gui de Chauliac
Isabelle Arnulf - Sorbonne Université
Michel Lecendreux - Hôpital Robert-Debré
Sirous Javidi - Philipps University of Marburg
Peter Geisler - University of Regensburg
Geert Mayer - Philipps University of Marburg
Fabio Pizza - University of Bologna
Francesca Poli - Istituto delle Scienze Neurologiche di Bologna
Giuseppe Plazzi - Istituto delle Scienze Neurologiche di Bologna
Sebastiaan Overeem - Kempenhaeghe
Gert Jan Lammers - Leiden University Medical Center
David Kemlink - Charles University
Karel Sonka - Charles University
Sona Nevsimalova - Charles University
Guy Rouleau - Université de Montréal
Alex Desautels - Hôpital du Sacré-Cœur de Montréal
Jacques Montplaisir - Hôpital du Sacré-Cœur de Montréal
Birgit Frauscher - Innsbruck Medical University
Laura Ehrmann - Innsbruck Medical University
Birgit Högl - Innsbruck Medical University
Poul Jennum - Glostrup Hospital
Patrice Bourgin - Université de Strasbourg
Rosa Peraita-Adrados - Hospital General Universitario Gregorio Marañón
Alex Iranzo - Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
Claudio Bassetti - University Hospital of Bern
Wei-Min Chen
Patrick Concannon - University of Virginia
Susan D Thompson - Cincinnati Children's Hospital Medical Center
Vincent Damotte - Inserm
Bertrand Fontaine - Assistance Publique – Hôpitaux de Paris
Maxime Breban - Hôpital Ambroise-Paré
Christian Gieger - Helmholtz Zentrum München
Norman Klopp - Helmholtz Zentrum München
Panos Deloukas - Wellcome Sanger Institute
Cisca Wijmenga - University Medical Center Groningen
Joachim Hallmayer - Stanford University
Suna Onengut-Gumuscu - University of Virginia
Stephen S Rich - University of Virginia
Juliane Winkelmann - Klinikum rechts der Isar
Emmanuel Mignot - Stanford University
Publication Details: PLoS Genetics, Vol.9 (2)(Art n°e1003270)
Identifiers: 99106642809311
Academic Unit: Université de Montpellier
Language: English
Resource Type: Journal article
Local Fields: hal-05254879