@article {{{\ c c} olak2000558，作者= {{{\ c c} olak，yunus和nordestgaard，b {\ o} rge G.和afzal，shoaib}，title = {castic纤维化的发病率和死亡率一般人口中的突变CFTR PHE508DEL}，音量= {56}，number = {3}，Elocation-id = {2000558}，年= {2020}，doi = {10.1183/139993003.00558-2020}社会}，摘要= {囊性纤维化（CF）是由常染色体衰竭的遗传遗传，该功能失调的囊性纤维化跨膜电导调节剂（CFTR）由于CFTR基因中的PHE508DEL突变而导致高达90 \％。我们检验了以下假设：CFTR PHE508DEL载体在普通人群中的发病率和死亡率与非携带者相比。我们的基因分型108 035从哥本哈根一般人口研究中随机选择的白人丹麦个体（从20 {\ textendash} 100年龄），用于CFTRTTRPHE508DEL突变（RS113993960）。横截面评估了慢性支气管炎和气流限制的风险。支气管扩张，肺癌，肺炎，慢性鼻窦炎，气道出血，自发性肺炎，呼吸衰竭，急性和慢性胰腺炎，肝肝硬化，伊利诺斯，伊利诺斯，胃和结肠癌在15岁时评估15年的总体生存和风险。随访（中值：9年）。由于CFTR PHE508DEL和已知CF，因此排除了一个人。没有其他人在基线检查或随访期间诊断出CF。在最终的108034个人中，105 176（97 \％）是非携带者，2858（3 \％）是载体（即CFTR PHE508DEL）。 Overall survival was similar between carriers and non-carriers. Compared to non-carriers and with multivariable adjustment, carriers had an odds ratio (OR) of 1.31 (95\% CI 1.16{\textendash}1.48) for chronic bronchitis, a hazard ratio (HR) of 1.88 (95\% CI 1.03{\textendash}3.45) for bronchiectasis and 1.52 (95\% CI 1.12{\textendash}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 (1.3-fold), bronchiectasis (1.9-fold) and lung cancer (1.5-fold).In the general population, carriers of the cystic fibrosis mutation CFTR Phe508del have a normal lifespan but an increased risk of chronic bronchitis (1.3-fold), bronchiectasis (1.9-fold) and lung cancer (1.5-fold) https://bit.ly/2YJn63Y}, issn = {0903-1936}, URL = {//www.qdcxjkg.com/content/56/3/2000558}, eprint = {//www.qdcxjkg.com/content/56/3/2000558.full.pdf}, journal = {European Respiratory Journal} }