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
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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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology |
UniBE Contributor: |
Bassetti, Claudio L.A. |
ISSN: |
1553-7390 |
Publisher: |
Public Library of Science |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 14:40 |
Last Modified: |
02 Mar 2023 23:21 |
Publisher DOI: |
10.1371/journal.pgen.1003270 |
PubMed ID: |
23459209 |
Web of Science ID: |
000315638300028 |
BORIS DOI: |
10.7892/boris.16456 |
URI: |
https://boris.unibe.ch/id/eprint/16456 (FactScience: 224098) |
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