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学科主题临床医学
Common variants in P2RY11 are associated with narcolepsy
Kornum, Birgitte R.1,2,3; Kawashima, Minae1,2,4; Faraco, Juliette1,2; Lin, Ling1,2; Rico, Thomas J.1,2; Hesselson, Stephanie5; Axtell, Robert C.6; Kuipers, Hedwich6; Weiner, Karin1,2; Hamacher, Alexandra7; Kassack, Matthias U.7; Han, Fang8; Knudsen, Stine3; Li, Jing8; Dong, Xiaosong8; Winkelmann, Juliane9,10,11; Plazzi, Giuseppe12; Nevsimalova, Sona13,14; Hong, Seung-Chul15; Honda, Yutaka16; Honda, Makoto17; Hogl, Birgit18; Ton, Thanh G. N.19,20; Montplaisir, Jacques21; Bourgin, Patrice22; Kemlink, David13,14; Huang, Yu-Shu23,24; Warby, Simon1,2; Einen, Mali1,2; Eshragh, Jasmin L.5; Miyagawa, Taku4; Desautels, Alex21; Ruppert, Elisabeth22; Hesla, Per Egil25; Poli, Francesca12; Pizza, Fabio12; Frauscher, Birgit18; Jeong, Jong-Hyun15; Lee, Sung-Pil15; Strohl, Kingman P.26; Longstreth, William T., Jr.19,20; Kvale, Mark5; Dobrovolna, Marie27; Ohayon, Maurice M.1,2; Nepom, Gerald T.28; Wichmann, H-Erich29,30; Rouleau, Guy A.31,32; Gieger, Christian30; Levinson, Douglas F.1,2; Gejman, Pablo V.33; Meitinger, Thomas9,10,11; Peppard, Paul34; Young, Terry34; Jennum, Poul3; Steinman, Lawrence6; Tokunaga, Katsushi4; Kwok, Pui-Yan5; Risch, Neil5,35,36; Hallmayer, Joachim1,2; Mignot, Emmanuel1,2
刊名NATURE GENETICS
2011
DOI10.1038/ng.734
43期:1页:66-U90
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]P2Y(11) RECEPTOR ; ENDOTHELIAL-CELLS ; DENDRITIC CELLS ; T-LYMPHOCYTES ; ATP ; ACTIVATION ; ONSET ; AUTOANTIBODIES ; SUSCEPTIBILITY ; INFLAMMATION
英文摘要

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.

语种英语
WOS记录号WOS:000285683500018
项目编号P50 NS2372 ; 09-066348/FSS ; 5 T32 AI07290 ; R01 MH080957 ; 5U01 MH079470 ; NS-044199
资助机构National Institutes of neurological Disease ; Danish Medical Council ; National Institutes of Mental Health ; US National Institutes of Health
引用统计
被引频次:122[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/66912
专题北京大学第二临床医学院_呼吸科
作者单位1.Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada
2.Kaiser Permanente No Calif Div Res, Oakland, CA USA
3.Stanford Univ, Sch Med, Ctr Sleep Sci, Palo Alto, CA 94304 USA
4.Stanford Univ, Sch Med, Dept Psychiat, Palo Alto, CA 94304 USA
5.Univ Copenhagen, Glostrup Hosp, Danish Ctr Sleep Med, Glostrup, Denmark
6.Univ Tokyo, Dept Human Genet, Tokyo, Japan
7.Univ Calif San Francisco, Sch Med, Inst Human Genet, San Francisco, CA USA
8.Stanford Univ, Dept Neurol & Neurol Sci, Palo Alto, CA 94304 USA
9.Univ Dusseldorf, Inst Pharmaceut & Med Chem, Dusseldorf, Germany
10.Tech Univ Munich, Inst Human Genet, Munich, Germany
11.Tech Univ Munich, Dept Neurol, Munich, Germany
12.Univ Bologna, Dept Neurol Sci, Bologna, Italy
13.Beijing Univ, Peoples Hosp, Dept Pulm Med, Beijing 100871, Peoples R China
14.German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany
15.Charles Univ Prague, Fac Med 1, Dept Neurol, Prague, Czech Republic
16.Catholic Univ Korea, St Vincents Hosp, Dept Neuropsychiat, Suwon, South Korea
17.Tokyo Metropolitan Org Med Res, Tokyo Inst Psychiat, Tokyo, Japan
18.Univ Washington, Dept Neurol, Seattle, WA 98195 USA
19.Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA
20.Univ Strasbourg, Hop Civil, Sleep Clin, Strasbourg, France
21.Chang Gung Mem Univ Hosp, Dept Child Psychiat, Taipei, Taiwan
22.Coliseum Majorstua Clin, Med Sect, Electroencephalog EEG Lab, Oslo, Norway
23.Inst Hematol & Blood Transfus, Natl Reference Lab DNA Diagnost, HLA Typing Lab, CR-12820 Prague, Czech Republic
24.German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol, Munich, Germany
25.Univ Munich, Inst Med Informat Biometry & Epidemiol, D-80539 Munich, Germany
26.Ctr Hosp Univ Montreal, Ctr Rech, Ctr Excellence Neurom, Montreal, PQ, Canada
27.Evanston NW Healthcare Res Inst, Dept Psychiat & Behav Sci, Evanston, IL USA
28.Univ Wisconsin, Sch Med & Publ Hlth, Dept Populat Hlth Sci, Madison, WI USA
29.Univ Calif San Francisco, Sch Med, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA
30.Gen Univ Hosp, Prague, Czech Republic
31.Japan Sornnol Ctr, Neuropsychiat Res Inst, Tokyo, Japan
32.Innsbruck Med Univ, Dept Neurol, Innsbruck, Austria
33.Univ Montreal, Sleep Disorders Ctr, Montreal, PQ, Canada
34.Chang Gung Mem Univ Hosp, Dept Sleep Med, Taipei, Taiwan
35.Vet Adm Med Ctr, Div Pulm & Crit Care Med, Cleveland, OH 44106 USA
36.Benaroya Res Inst Virginia Mason, Seattle, WA USA
推荐引用方式
GB/T 7714
Kornum, Birgitte R.,Kawashima, Minae,Faraco, Juliette,et al. Common variants in P2RY11 are associated with narcolepsy[J]. NATURE GENETICS,2011,43(1):66-U90.
APA Kornum, Birgitte R..,Kawashima, Minae.,Faraco, Juliette.,Lin, Ling.,Rico, Thomas J..,...&Mignot, Emmanuel.(2011).Common variants in P2RY11 are associated with narcolepsy.NATURE GENETICS,43(1),66-U90.
MLA Kornum, Birgitte R.,et al."Common variants in P2RY11 are associated with narcolepsy".NATURE GENETICS 43.1(2011):66-U90.
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