@Article {Lee2001224,作者= {Lee,Sanghun和Lasky-Su,Jessica Ann和Lange,Christoph and Kim,Wonji和Kumar,Preeti Lakshman和McDonald,Mermer-Lynnn N.和Fragoso,Carlos A. Vaz和Laurie,Carlos A. Vaz和Laurie,Laurie,Laurie,Laurie,Laurie,Laurie,Laurie,cecelia和Raby,Benjamin A.和Celed {\'o} N,Juan C.和Cho,Michael H.,Won,Sungho and Weiss,Scott T.和Hecker,Julian},Title = {{儿童哮喘},Elocation-id = {2001224},年= {2020},doi = {10.1183/13993003.01224-2020},出版商= {欧洲呼吸社会},摘要= {背景大多数患有哮喘患有呼吸疾188bet官网地址病的儿童作为咳嗽,呼吸困难和喘息,这也是整体呼吸功能的重要标志。十年的全基因组关联研究(GWAS)研究了哮喘诊断本身的遗传敏感性,但很少有人专注于重要的呼吸道症状,这些呼吸症状是童年哮喘特征的特征,使用全基因组测序(WGS)数据,用于894哮喘三重量表。哥斯达黎加队列,我们​​进行了基于家庭的关联测试(FBAT),以评估遗传变异与多个与哮喘相关的呼吸表型之间的关联:咳嗽,痰,喘息,喘息,劳累性呼吸困难和胸部紧绷。我们测试了整个基因组的重要关联是否在另外两项研究中复制:1)来自儿童哮喘管理计划(CAMP)的286个WGS三重奏,以及2)2691年非裔美国人(AA)现任或前吸烟者或前吸烟者。894 Costa Rican Trios,我们确定了全基因组呼吸困难和单核苷酸多态性(SNP)RS10165869之间的显着关联,位于染色体2Q37.3上,P值为3.49 {\ texttimes} 10-9,该染色体的p值在cAMP COLORT中得到了复制。(p = 0.0222)具有相同的关联方向(组合p = 5.54 {\ texttimes} 10-10),但在COPDGENE的AA受试者中没有关联。我们还发现了SNP RS10165869与非典型趋化因子受体3(ACKR3)之间的联系的暗示性证据,以进行生物学解释。判定我们确定并复制了劳累性呼吸困难和SNP RS10165869之间的新型关联,以鼓励发现呼吸道症状与呼吸症状的呼吸趋势杂质群体相关。 in various airway diseases.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: Dr. Lee has nothing to disclose.Conflict of interest: Dr Lasky-Su has nothing to disclose.Conflict of interest: Dr Lange has nothing to disclose.Conflict of interest: Dr Kim has nothing to disclose.Conflict of interest: Dr Kumar~has nothing to disclose.Conflict of interest: Dr. McDonald has nothing to disclose.Conflict of interest: Dr. Vaz Fragoso has nothing to disclose.Conflict of interest: Dr Laurie has nothing to disclose.Conflict of interest: Dr Raby has nothing to disclose.Conflict of interest: Dr. Celedon 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.Conflict of interest: Dr Cho has nothing to disclose.Conflict of interest: Dr Won has nothing to disclose.Conflict of interest: Dr. Weiss reports that he is an author for UpToDate, PI of several NIH grants and an unpaid advisor to Novartis Pharmaceuticals.Conflict of interest: Dr. Hecker has nothing to disclose.}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/early/2020/08/06/13993003.01224-2020}, eprint = {//www.qdcxjkg.com/content/early/2020/08/06/13993003.01224-2020.full.pdf}, journal = {European Respiratory Journal} }