CFTR基因突变杂合性与哮喘发生之间的关联：一项系统综述。
The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.
作者信息
Koumpagioti Despoina, Moriki Dafni, Boutopoulou Barbara, Matziou Vasiliki, Loukou Ioanna, Priftis Kostas N, Douros Konstantinos
机构信息
Department of Nursing, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Third Department of Pediatrics, School of Medicine, Attikon University Hospital, National and Kapodistrian University of Athens, 12462 Athens, Greece.
出版信息
J Clin Med. 2023 Mar 21;12(6):2403. doi: 10.3390/jcm12062403.
Asthma is caused by complex interactions between environmental and genetic factors. Various genes have been implicated as potential risk factors in the development of asthma; among them is cystic fibrosis transmembrane conductance regulator (CFTR) gene. The aim of this systematic review was to investigate the association of CFTR mutation heterozygosity with the development of asthma, by updating the existing data with recent studies' findings. Therefore, a systematic review of the literature was conducted on Pubmed, ESBCO (Cinahl) and Scopus Databases up to December 2022. After the eligibility assessment, 17 studies were included in this review. Nine of them supported a lack of relationship between CFTR mutation heterozygosity and asthma susceptibility, and eight reported a positive association. Consequently, more extensive research is needed through high-quality studies to provide valid evidence and highlight the clinical benefits of identifying CFTR mutations in asthma patients, their impact on asthma severity, or treatment perspectives.
哮喘是由环境因素和遗传因素之间的复杂相互作用引起的。多种基因被认为是哮喘发病的潜在风险因素；其中包括囊性纤维化跨膜传导调节因子（CFTR）基因。本系统评价的目的是通过用近期研究结果更新现有数据，来研究CFTR突变杂合性与哮喘发病之间的关联。因此，截至2022年12月，在PubMed、ESBCO（护理学与健康领域数据库）和Scopus数据库上对文献进行了系统评价。经过资格评估，本评价纳入了17项研究。其中9项研究支持CFTR突变杂合性与哮喘易感性之间缺乏关联，8项研究报告了正相关。因此，需要通过高质量研究进行更广泛的研究，以提供有效证据，并突出识别哮喘患者CFTR突变的临床益处、其对哮喘严重程度的影响或治疗前景。
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