JCM, Vol. 12, Pages 2403: The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review

JCM, Vol. 12, Pages 2403: The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review

Journal of Clinical Medicine doi: 10.3390/jcm12062403

Authors: Despoina Koumpagioti Dafni Moriki Barbara Boutopoulou Vasiliki Matziou Ioanna Loukou Kostas N. Priftis Konstantinos Douros

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.