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Kornum, B.R.* ; Kawashima, M.* ; Faraco, J.* ; Lin, L.* ; Rico, T.J.* ; Hesselson, S.* ; Axtell, RC.* ; Kuipers, H.* ; Weiner, K.* ; Hamacher, A.* ; Kassack, M.U.* ; Han, F.* ; Knudsen, S.* ; Li, J.* ; Dong, X.* ; Winkelmann, J. ; Plazzi, G.* ; Nevsimalova, S.* ; Hong, SC.* ; Honda, Y.* ; Honda, M.* ; Högl, B.* ; Ton, TG.* ; Montplaisir, J.* ; Bourgin, P.* ; Kemlink, D.* ; Huang, YS.* ; Warby, S.* ; Einen, M.* ; Eshragh, J.L.* ; Miyagawa, T.* ; Desautels, A.* ; Ruppert, E.* ; Hesla, P.E.* ; Poli, F.* ; Pizza, F.* ; Frauscher, B.* ; Jeong, JH.* ; Lee, S.P.* ; Strohl, K.P.* ; Longstreth, W.T. Jr.* ; Kvale, M.* ; Dobrovolná, M.* ; Ohayon, M.M.* ; Nepom, G.T.* ; Wichmann, H.-E. ; Rouleau, G.A.* ; Gieger, C.* ; Levinson, D.F.* ; Gejman, P.V.* ; Meitinger, T. ; Peppard, P.* ; Young, T.* ; Jennum, P.* ; Steinman, L.* ; Tokunaga, K.* ; Kwok, P.Y.* ; Risch, N.* ; Hallmayer, J.* ; Mignot, E.*

Common variants in P2RY11 are associated with narcolepsy.

Nat. Genet. 43, 66-71 (2011)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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 × 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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter no keywords
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Zeitschrift Nature Genetics
Quellenangaben Band: 43, Heft: 1, Seiten: 66-71 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Verlagsort New York, NY
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)
Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)