About: ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1371/journal.pgen.1003270
Description	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. 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. (en)
Title	ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy (en)
skos:prefLabel	ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy (en)
skos:notation	RIV/00064165:_____/13:10189358!RIV14-MZ0-00064165
http://linked.open...avai/riv/aktivita	I Z
http://linked.open...avai/riv/aktivity	I, Z(MSM0021620849)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Šonka, Karel Kemlink, David Nevšímalová, Soňa
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	78905
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/13:10189358
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	ox40l; diseases; metaanalysis; polymorphism; loci; risk; haplotype; confers susceptibility; Genome-wide association (en)
http://linked.open.../riv/klicoveSlovo	haplotype loci metaanalysis polymorphism risk confers susceptibility ox40l Genome-wide association diseases
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[88053BE60EA2]
http://linked.open...i/riv/nazevZdroje	PLoS Genetics [online]
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	48 (xsd:int)
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	9
http://linked.open...iv/tvurceVysledku	Kemlink, David Nevšímalová, Soňa Šonka, Karel Dauvilliers, Yves Einen, Mali Jennum, Poul Plazzi, Giuseppe Poli, Francesca Arnulf, Isabelle Desautels, Alex Frauscher, Birgit Montplaisir, Jacques Bourgin, Patrice Ehrmann, Laura Faraco, Juliette Geisler, Peter Hoegl, Birgit Javidi, Sirous Kenny, Eimear E. Kornum, Birgitte Rahbek Lammers, Gert Jan Lecendreux, Michel Lichtner, Peter Lin, Ling Mayer, Geert Overeem, Sebastiaan Pizza, Fabio Rico, Tom J. Rouleau, Guy Trynka, Gosia
http://linked.open...ain/vavai/riv/wos	000315638300028
http://linked.open...n/vavai/riv/zamer	Neuropsychiatrické aspekty neurodegenerativních onemocnění
issn	1553-7404
number of pages	7 (xsd:int)
http://bibframe.org/vocab/doi	10.1371/journal.pgen.1003270

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