12月19日，一份由北京大学人民医院和中国台湾长庚大学参与的研究成果在Nature Genetics上发表。
P2RY11是一种人体中编码P2RY11基因的蛋白质，属于G蛋白偶联受体家族。
嗜睡症（narcolepsy）是一种神经功能性疾病，它能引起不可抑制性睡眠的发生。越来越多的研究表明它是一种自身免疫性疾病。研究者通过全基因组（GWAS）分析了三个种族群组，其中3406个欧洲人、2414个亚洲人和302名非洲人。分析发现了，P2RY11了一个3'非转录区的SNP，它是一个与嗜睡症相关的P2Y11基因的嘌呤受体亚型。该疾病基因相关基因导致了CD8+ T淋巴细胞和自然杀伤细胞数量的显著性降低，但是在其他外周血单核细胞中并未存在。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)。
这些结果表明了P2RY11是免疫细胞存活的重要调节物，可能与嗜睡症和自身免疫性疾病有关。（生物谷Bioon.com）
生物谷推荐原文摘要：
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.
