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ImmunoChip study implicates antigen presentation to T cells in narcolepsy.

PLoS Genet. 9:e1003270 (2013)
Publishers Version DOI PMC
Open Access Gold
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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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide Association ; Confers Susceptibility ; Haplotype ; Risk ; Loci ; Polymorphism ; Metaanalysis ; Diseases ; Ox40l
Reviewing status