ImmunoChip study implicates antigen presentation to T cells in narcolepsy
Data(s) |
2013
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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 |