About: Common variants in P2RY11 are associated with 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/10.1038/ng.734
Description	Growing evidence supports the hypothesis that narcolepsy with cataplexy is an autoimmune disease. We here report genome-wide association analyses for narcolepsy with replication and fine mapping across three ethnic groups (3,406 individuals of European ancestry, 2,414 Asians and 302 African Americans). We identify a SNP in the 3' untranslated region of P2RY11, the purinergic receptor subtype P2Y(11) gene, which is associated with narcolepsy (rs2305795, combined P = 6.1 x 10(-10), odds ratio = 1.28, 95% CI 1.19-1.39, n = 5689). The disease-associated allele is correlated with reduced expression of P2RY11 in CD8(+) T lymphocytes (339% reduced, P = 0.003) and natural killer (NK) cells (P = 0.031), but not in other peripheral blood mononuclear cell types. The low expression variant is also associated with reduced P2RY11-mediated resistance to ATP-induced cell death in T lymphocytes (P = 0.0007) and natural killer cells (P = 0.001). These results identify P2RY11 as an important regulator of immune-cell survival, with possible implications in narcolepsy and other autoimmune diseases. Growing evidence supports the hypothesis that narcolepsy with cataplexy is an autoimmune disease. We here report genome-wide association analyses for narcolepsy with replication and fine mapping across three ethnic groups (3,406 individuals of European ancestry, 2,414 Asians and 302 African Americans). We identify a SNP in the 3' untranslated region of P2RY11, the purinergic receptor subtype P2Y(11) gene, which is associated with narcolepsy (rs2305795, combined P = 6.1 x 10(-10), odds ratio = 1.28, 95% CI 1.19-1.39, n = 5689). The disease-associated allele is correlated with reduced expression of P2RY11 in CD8(+) T lymphocytes (339% reduced, P = 0.003) and natural killer (NK) cells (P = 0.031), but not in other peripheral blood mononuclear cell types. The low expression variant is also associated with reduced P2RY11-mediated resistance to ATP-induced cell death in T lymphocytes (P = 0.0007) and natural killer cells (P = 0.001). These results identify P2RY11 as an important regulator of immune-cell survival, with possible implications in narcolepsy and other autoimmune diseases. (en)
Title	Common variants in P2RY11 are associated with narcolepsy Common variants in P2RY11 are associated with narcolepsy (en)
skos:prefLabel	Common variants in P2RY11 are associated with narcolepsy Common variants in P2RY11 are associated with narcolepsy (en)
skos:notation	RIV/00064165:_____/11:9699!RIV12-MZ0-00064165
http://linked.open...avai/riv/aktivita	I Z
http://linked.open...avai/riv/aktivity	I, Z(MSM0021620849)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	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	190948
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/11:9699
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	P2y(11) receptor; endothelial-cells; dendritic cells; t-lymphocytes; atp; activation; onset; autoantibodies; susceptibility; inflammation (en)
http://linked.open.../riv/klicoveSlovo	P2y(11) receptor activation atp autoantibodies dendritic cells endothelial-cells inflammation onset susceptibility t-lymphocytes
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[0F34C1D4DB03]
http://linked.open...i/riv/nazevZdroje	Nature Genetics
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	60 (xsd:int)
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	43
http://linked.open...iv/tvurceVysledku	Axtell, R. C. Bourgin, P. Dong, X.S. Faraco, J. Hamacher, A. Han, F. Hesselson, S. Hogl, B. Honda, M. Honda, Y. Hong, S. C. Kassack, M.U. Kawashima, M. Kemlink, David Knudsen, S. Kornum, B. R. Kuipers, H. Li, J. Lin, L. Montplaisir, J. Nevšímalová, Soňa Plazzi, G. Rico, T. J. Ton, T.G.N. Weiner, K. Winkelmann, J.
http://linked.open...ain/vavai/riv/wos	000285683500018
http://linked.open...n/vavai/riv/zamer	Neuropsychiatrické aspekty neurodegenerativních onemocnění
issn	1061-4036
number of pages	7 (xsd:int)

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