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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F11%3A9699%21RIV12-MZ0-00064165
rdf:type
skos:Concept n15:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1038/ng.734
dcterms: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.
dcterms:title
Common variants in P2RY11 are associated with narcolepsy Common variants in P2RY11 are associated with narcolepsy
skos:prefLabel
Common variants in P2RY11 are associated with narcolepsy Common variants in P2RY11 are associated with narcolepsy
skos:notation
RIV/00064165:_____/11:9699!RIV12-MZ0-00064165
n15:predkladatel
n16:ico%3A00064165
n3:aktivita
n10:I n10:Z
n3:aktivity
I, Z(MSM0021620849)
n3:cisloPeriodika
1
n3:dodaniDat
n12:2012
n3:domaciTvurceVysledku
n13:3286371 n13:5374677
n3:druhVysledku
n9:J
n3:duvernostUdaju
n17:S
n3:entitaPredkladatele
n8:predkladatel
n3:idSjednocenehoVysledku
190948
n3:idVysledku
RIV/00064165:_____/11:9699
n3:jazykVysledku
n6:eng
n3:klicovaSlova
P2y(11) receptor; endothelial-cells; dendritic cells; t-lymphocytes; atp; activation; onset; autoantibodies; susceptibility; inflammation
n3:klicoveSlovo
n4:atp n4:dendritic%20cells n4:P2y%2811%29%20receptor n4:activation n4:t-lymphocytes n4:autoantibodies n4:endothelial-cells n4:onset n4:inflammation n4:susceptibility
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[0F34C1D4DB03]
n3:nazevZdroje
Nature Genetics
n3:obor
n19:FH
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
60
n3:rokUplatneniVysledku
n12:2011
n3:svazekPeriodika
43
n3:tvurceVysledku
Plazzi, G. Kemlink, David Kassack, M.U. Dong, X.S. Hong, S. C. Faraco, J. Hogl, B. Han, F. Bourgin, P. Nevšímalová, Soňa Axtell, R. C. Ton, T.G.N. Winkelmann, J. Kuipers, H. Kawashima, M. Weiner, K. Kornum, B. R. Lin, L. Honda, Y. Rico, T. J. Knudsen, S. Honda, M. Hamacher, A. Montplaisir, J. Li, J. Hesselson, S.
n3:wos
000285683500018
n3:zamer
n11:MSM0021620849
s:issn
1061-4036
s:numberOfPages
7