12月19日,，一份由北京大學(xué)人民醫(yī)院和中國(guó)臺(tái)灣長(zhǎng)庚大學(xué)參與的研究成果在Nature Genetics上發(fā)表,。
P2RY11是一種人體中編碼P2RY11基因的蛋白質(zhì)，屬于G蛋白偶聯(lián)受體家族,。
嗜睡癥（narcolepsy）是一種神經(jīng)功能性疾病,，它能引起不可抑制性睡眠的發(fā)生。越來(lái)越多的研究表明它是一種自身免疫性疾病,。研究者通過(guò)全基因組（GWAS）分析了三個(gè)種族群組,，其中3406個(gè)歐洲人、2414個(gè)亞洲人和302名非洲人,。分析發(fā)現(xiàn)了,，P2RY11了一個(gè)3'非轉(zhuǎn)錄區(qū)的SNP，它是一個(gè)與嗜睡癥相關(guān)的P2Y11基因的嘌呤受體亞型,。該疾病基因相關(guān)基因?qū)е铝薈D8+ T淋巴細(xì)胞和自然殺傷細(xì)胞數(shù)量的顯著性降低,，但是在其他外周血單核細(xì)胞中并未存在,。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)。
這些結(jié)果表明了P2RY11是免疫細(xì)胞存活的重要調(diào)節(jié)物,，可能與嗜睡癥和自身免疫性疾病有關(guān)。（生物谷Bioon.com）
生物谷推薦原文摘要：
Nature Genetics 43, 66–71 (2011) doi:10.1038/ng.734
Common variants in P2RY11 are associated with narcolepsy
Birgitte R Kornum, Minae Kawashima, Juliette Faraco, Ling Lin, Thomas J Rico, Stephanie Hesselson, Robert C Axtell, Hedwich Kuipers, Karin Weiner, Alexandra Hamacher, Matthias U Kassack, Fang Han, Stine Knudsen, Jing Li, Xiaosong Dong, Juliane Winkelmann, Giuseppe Plazzi, Sona Nevsimalova, Seung-Chul Hong, Yutaka Honda, Makoto Honda, Birgit H?gl, Thanh G N Ton, Jacques Montplaisir, Patrice Bourgin et al.
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 P2Y11 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.
