. "Plazzi, G." . "Kemlink, David" . "Kassack, M.U." . "Dong, X.S." . "Common variants in P2RY11 are associated with narcolepsy"@en . "Hong, S. C." . . . "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." . . "Faraco, J." . "Hogl, B." . "190948" . . . "[0F34C1D4DB03]" . "Han, F." . "Common variants in P2RY11 are associated with narcolepsy" . . . . "Bourgin, P." . . . "1061-4036" . . "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 . "7"^^ . "000285683500018" . "1" . . "Nev\u0161\u00EDmalov\u00E1, So\u0148a" . "Axtell, R. C." . "Ton, T.G.N." . "Winkelmann, J." . "Kuipers, H." . . . "Kawashima, M." . . . "43" . "Nature Genetics" . "Weiner, K." . "RIV/00064165:_____/11:9699!RIV12-MZ0-00064165" . "Common variants in P2RY11 are associated with narcolepsy"@en . . "Kornum, B. R." . . "P2y(11) receptor; endothelial-cells; dendritic cells; t-lymphocytes; atp; activation; onset; autoantibodies; susceptibility; inflammation"@en . "Lin, L." . "Honda, Y." . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . "2"^^ . "I, Z(MSM0021620849)" . . "Rico, T. J." . "Common variants in P2RY11 are associated with narcolepsy" . "Knudsen, S." . . "Honda, M." . "Hamacher, A." . "RIV/00064165:_____/11:9699" . . "60"^^ . . "http://dx.doi.org/10.1038/ng.734" . "Montplaisir, J." . . "Li, J." . "Hesselson, S." . .