TY - T1的发病率和死亡率在囊性纤维化突变携带者的< em >雌性生殖道< / em > Phe508del一般人群JF -欧洲呼吸杂志》乔和J - 10.1183/13993003.00558 -2020欧元SP - 2000558 AU Colak尤努斯盟——Nordestgaard Børge g . AU -阿夫扎尔N2 -囊性纤维化是一种功能失调的囊性纤维化跨膜电导调节因子(CFTR)的常染色体隐性遗传引起的，由于CFTR基因中Phe508del突变，该基因高达90%。我们检验了CFTR Phe508del携带者相对于非携带者在一般人群中有更高的发病率和死亡率的假设。我们从哥本哈根一般人群研究中随机选择108 035名年龄在20-100岁的丹麦白人个体进行CFTR Phe508del (rs113993960)基因分型。我们横断面评估了慢性支气管炎和气流限制的风险，以及总体生存率和支气管扩张、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、肠梗阻、胃癌和结肠直肠癌的风险。男性不育症的随访时间为15年(中位数:9年)。由于CFTR Phe508del纯合性和已知的囊性纤维化，单个个体被排除。在基线检查或随访期间，没有其他人诊断出囊性纤维化。108034个个体中，非携带者105176(97%)，携带者2858(3%)，即CFTR Phe508del杂合子。携带者和非携带者的总生存率相似。 Compared to non-carriers and multivariable adjusted, carriers had odds ratio of 1.31(95% confidence interval:1.16–1.48) for chronic bronchitis, hazard ratio of 1.88(1.03–3.45) for bronchiectasis, and hazard ratio of 1.52(1.12–2.08) for lung cancer. 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 -