Association of M470V polymorphism of CFTR gene with variability of clinical expression of asthma: Case-report study

Wahabi, Imen; Fredj, Sondess Hadj; Nefzi, Malek; Dabboubi, Rym; Siala, Hajer; Khalsi, F.; Bousetta, Khedija; Messaoud, Taieb

doi:10.1016/j.aller.2018.06.007

Cited by 1 publication

(1 citation statement)

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“…Concerning the M470V polymorphism, it was found at a higher but not significant frequency, in asthmatic patients with missense mutations (52%) than in asthmatic patients without mutations (38%) ( p = 0.08) and the general population (33%), according to Lazaro et al [ 8 ]. Wahabi et al observed that there were no significant differences in the M470V allelic distribution in asthma cases and healthy controls, although they found a significant difference in the genotype frequencies between the two groups, as the v / v (positive control) genotype was overrepresented in the asthmatic group, whereas the M/V (heterozygous control) genotype was more frequent in the healthy subjects [ 28 ]. Regarding the ethnic background, the majority of the selected studies were conducted in Europe ( n = 8), where five of them revealed no association between CFTR heterozygosity and asthma [ 12 , 13 , 14 , 20 , 21 ] and three found a positive association [ 7 , 8 , 19 ].…”

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confidence: 99%

The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review

Koumpagioti

Moriki

Boutopoulou

et al. 2023

JCM

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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.

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