Ty-jour t1 - Gwas鉴定的SNP通过DNA甲基化和 CIS -GENES的DNA甲基化和ENGINGENS -GENES在气道上皮JF - 欧洲呼吸杂志Jo - EUR RESPIR J DO - 10.1183 / 13993003 -1183/13993003.02079-201902079 Au - Kim，Soyeon Au - Forno，Erick Au - Yan，Qi Au - Jiang，Yale Au - Zhang，Rong Au - Boutaoui，Nadia Au - Acosta-Pérez，埃德纳Au - Canino，Glorisa Au - Chen，Wei Au -Celedón，胡安C. Y1 - 2019年1月1日UR - //www.qdcxjkg.com/content/early/2019/11/26/13993003.02079-2019.abstract N2 - 横贯全国哮喘遗传协会（TAGC）确定878个与哮喘相关的SNP。我们假设这些SNP通过调节气道上皮中的基因表达，并进行表达定量性状基因座（EQTL）和中介分析，以确定鼻内的SNP和表达水平之间的直接关联（1 MB）（来自波多黎各·丽兰儿童的气道（n = 228）和没有（n = 241）哮喘的上皮。然后，我们测试了表达与TAGC SNP相关联的基因是否在特征性哮喘中差异地表达（DE）。我们鉴定了418个TAGC SNP的1150个直接关联和55个顺式基因的表达。大多数SNP调节遥远的顺式基因（平均距离~200 kB）。我们的调解分析表明，4571（89.2％）的5119（直接和间接）SNP-基因表达缔酶通过甲基化介导。在114个基因中，其表达与TAGC SNPS相关的基因，54是特应性哮喘的DE，包括新颖和先前报道的基因。在72个非洲裔美国儿童的独立队列中，54个基因中的50个可用，21（42％）也在特应哮喘中。 Thus, we show that many TAGC SNPs are associated with expression of distant cis-genes in airway epithelium, and that this is predominantly mediated by DNA methylation. Moreover, nearly half of the genes whose expression in airway epithelium is associated with TAGC SNPs are also DE in atopic asthma. Our findings support a key role of regulation of airway epithelial gene expression on atopic asthma in children.FootnotesThis manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.Conflict of interest: S. Kim has nothing to disclose.Conflict of interest: E. Forno has nothing to disclose.Conflict of interest: Q. Yan has nothing to disclose.Conflict of interest: Y. Jiang has nothing to disclose.Conflict of interest: R. Zhang has nothing to disclose.Conflict of interest: N. Boutaoui has nothing to disclose.Conflict of interest: E. Acosta-Pérez has nothing to disclose.Conflict of interest: G. Canino has nothing to disclose.Conflict of interest: W. Chen has nothing to disclose.Conflict of interest: J.C. Celedón has received research materials from GSK and Merck (inhaled steroids) and Pharmavite (vitamin D and Placebo capsules), in order to provide medications free of cost to participants in NIH-funded studies, unrelated to the current work. ER -