TY-JUR T1 - 囊性纤维化突变载体的发病率和死亡率 CFTR PHE508DEL在一般人群JF - 欧洲呼吸期刊JO - EUR RESPIR J DO - 10.1183 / 13993003.00558-2020 SP - 2000558 AU -Çolak，Yunus Au - Nordestgaard，BørgeG.Au - Afzal，Shoaib Y1 - 2020 / 01/01 Ur - //www.qdcxjkg.com/content/early/2020/13993003.00558-2020.abstract n2- 囊性纤维化是由功能障碍囊性纤维化跨膜电导调节器（CFTR）的常染色体隐性遗传引起的，由于CFTR基因的PHE508DEL突变，高达90％。我们测试了一个假设，即CFTR PHE508DEL载体与一般人群中的非载体的发病率和死亡率增加。我们基因分为108 035随机选择了20-100岁的白丹麦人，从哥本哈根PHE508DEL（RS113993960）。我们评估了慢性支气管炎和气流限制的风险，以及支气管扩张，肺癌，肺炎，慢性鼻窦炎，气道出血，自发性气胸，呼吸衰竭，急性和慢性胰腺炎，肝硬化，肝硬化，胃窦和胃癌结肠直肠癌，和男性不孕症在高达15年的后续行动期间（中位数：9年）。由于CFTR PHE508DEL和已知囊性纤维化的纯合子，单个个体被排除在外。在基线检查中没有其他人患有囊性纤维化，或在后续期间.Among 108 034个体，105176（97％）是非载体，2858（3％）是载体，即CFTR PHE508del的杂合子。运营商和非载体之间的整体生存率相似。与非载体和多变量调节相比，载体的比率比为1.31（95％置信区间：1.16-1.48），用于慢性支气管炎，支气管扩张的危害比为1.88（1.03-3.45），危险比为1.52（1.12-2.08）对于肺癌。 Carriers did not differ from non-carriers concerning lung function or any other morbidity outcomes as mentioned above.In the general population, carriers of CFTR Phe508del have a normal lifespan but an increased risk of chronic bronchitis by 1.3-fold, bronchiectasis by 1.9-fold, and lung cancer by 1.5-fold.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. Çolak reports personal fees from Boehringer Ingelheim, AstraZeneca, and Sanofi Genzyme outside the submitted work.Conflict of interest: Dr. Nordestgaard has nothing to disclose.Conflict of interest: Dr. Afzal has nothing to disclose. ER -