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Faraco, J.* ; Lin, L.* ; Kornum, B.R.* ; Kenny, E.E.* ; Trynka, G.* ; Einen, M.* ; Rico, T.J.* ; Lichtner, P. ; Dauvilliers, Y.* ; Arnulf, I.* ; Lecendreux, M.* ; Javidi, S.* ; Geisler, P.* ; Mayer, G.* ; Pizza, F.* ; Poli, F.* ; Plazzi, G.* ; Overeem, S.* ; Lammers, G.J.* ; Kemlink, D.* ; Sonka, K.* ; Nevsimalova, S.* ; Rouleau, G.* ; Desautels, A.* ; Montplaisir, J.* ; Frauscher, B.* ; Ehrmann, L.* ; Högl, B.* ; Jennum, P.* ; Bourgin, P.* ; Peraita-Adrados, R.* ; Iranzo, A.* ; Bassetti, C.* ; Chen, W.M.* ; Concannon, P.* ; Thompson, S.D.* ; Damotte, V.* ; Fontaine, B.* ; Breban, M.* ; Gieger, C. ; Klopp, N. ; Deloukas, P.* ; Wijmenga, C.* ; Hallmayer, J.* ; Onengut-Gumuscu, S.* ; Rich, S.S.* ; Winkelmann, J. ; Mignot, E.*

ImmunoChip study implicates antigen presentation to T cells in narcolepsy.

PLoS Genet. 9:e1003270 (2013)
Publ. Version/Full Text Volltext DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genome-wide Association ; Confers Susceptibility ; Haplotype ; Risk ; Loci ; Polymorphism ; Metaanalysis ; Diseases ; Ox40l
ISSN (print) / ISBN 1553-7390
e-ISSN 1553-7404
Journal PLoS Genetics
Quellenangaben Volume: 9, Issue: 2, Pages: , Article Number: e1003270 Supplement: ,
Publisher Public Library of Science (PLoS)
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Genetic Epidemiology (IGE)
Research Unit Molecular Epidemiology (AME)