ImmunoChip study implicates antigen presentation to T cells in narcolepsy


Autoria(s): 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
Data(s)

2013

Resumo

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.

Formato

application/pdf

Identificador

http://boris.unibe.ch/16456/1/fetchObject.pdf

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; ... (2013). ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS genetics, 9(2), e1003270. San Francisco, Calif.: Public Library of Science 10.1371/journal.pgen.1003270 <http://dx.doi.org/10.1371/journal.pgen.1003270>

doi:10.7892/boris.16456

info:doi:10.1371/journal.pgen.1003270

info:pmid:23459209

urn:issn:1553-7390

Idioma(s)

eng

Publicador

Public Library of Science

Relação

http://boris.unibe.ch/16456/

Direitos

info:eu-repo/semantics/openAccess

Fonte

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; ... (2013). ImmunoChip study implicates antigen presentation to T cells in narcolepsy. PLoS genetics, 9(2), e1003270. San Francisco, Calif.: Public Library of Science 10.1371/journal.pgen.1003270 <http://dx.doi.org/10.1371/journal.pgen.1003270>

Tipo

info:eu-repo/semantics/article

info:eu-repo/semantics/publishedVersion

PeerReviewed