Journal of Angiotherapy
Angiogenesis, Inflammation & Therapeutics | Online ISSN  2207-872X
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RESEARCH ARTICLE   (Open Access)
Contents Vol 8 (10)

Genetic Contribution of CFTR Mutations to Chronic Bronchitis in Children: A Case-Control Study

Masharipova M. S. 1*, Xalimbetov G. S. 1, Khasanova D. A. 1, Nurmuxamedova Rohatoy Abdisharipovna 1

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Journal of Angiotherapy 8 (10) 1-5 https://doi.org/10.25163/angiotherapy.8109991

Submitted: 05 September 2024 Revised: 24 October 2024  Published: 25 October 2024 

Abstract

Background: Chronic bronchitis and bronchial asthma are significant respiratory conditions with complex etiologies influenced by genetic and environmental factors. Mutations in the CFTR gene have been implicated in severe respiratory diseases, underscoring the need to explore their association with these conditions. Methods: This study included 150 children with chronic bronchitis and bronchial asthma, alongside a control group of 60 healthy children. Clinical and genealogical analyses were conducted to evaluate hereditary predisposition. Molecular genetic studies focused on eight common CFTR mutations (F508del, W1282X, and N1303K) using RT-PCR with real-time detection. Statistical analyses, including Hardy-Weinberg equilibrium testing and odds ratio calculations, assessed genetic associations. Results: A hereditary predisposition was identified in 32.3% of parents of affected children. Among the patients, heterozygous CFTR mutations were detected, with F508del in 6.25%, W1282X in 2.1%, and N1303K in 2.1%. These findings suggest a strong genetic influence in the studied population. Conclusion: This study reinforces the role of CFTR mutations in chronic bronchitis and bronchial asthma, highlighting the genetic basis of these conditions. Future research should explore additional candidate genes and unidentified CFTR variants to enhance predictive medicine and personalized treatment strategies.

Keywords: CFTR mutations, chronic bronchitis, hereditary predisposition, pediatric respiratory diseases, genetic etiology

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