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Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children

Katarina Milosevic1, Aleksandra Nikolic, Aleksandra Divac Rankov

  • 1Department of Pulmonology and Allergology, University Children's Hospital , Belgrade, Serbia .

Pediatric Allergy, Immunology, and Pulmonology
|June 20, 2013
PubMed

Insights

Common Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants, specifically IVS8-5T and p.Met470Val, are linked to childhood idiopathic bronchiectasis in Serbian children. Further research is needed to confirm these findings in a larger patient cohort.

Area of Science:

  • Genetics
  • Pediatrics
  • Pulmonology

Background:

  • Idiopathic bronchiectasis in children presents a diagnostic challenge, with genetic factors potentially playing a role.
  • The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene is crucial for ion transport and its dysfunction is linked to various respiratory diseases.

Purpose of the Study:

  • To investigate the association between common Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants and the development of non-cystic fibrosis bronchiectasis in Serbian children.
  • To determine the frequency of specific CFTR gene variants in a cohort of children diagnosed with idiopathic bronchiectasis.

Main Methods:

  • Genetic analysis of the CFTR gene was performed on DNA from 48 Serbian children diagnosed with idiopathic bronchiectasis.
  • Methods included polymerase chain reaction (PCR)-Mediated Site-Directed Mutagenesis, Denaturing Gradient Gel Electrophoresis, and DNA sequencing.
  • Allelic frequencies of CFTR variants were compared to the general population.

Main Results:

  • The c.1210-12T[5] (IVS8-5T) allele was significantly more prevalent in patients (10.4%) compared to the general population (5.0%, P=0.0302).
  • Homozygosity for the Met 470 allele was higher in patients (33%) versus controls (20%), with heterozygosity for p.Met470Val being less frequent (31% vs. 50%, P=0.0222).
  • The F508del mutation and R75Q variant were also detected.

Conclusions:

  • Common CFTR variants, specifically IVS8-5T and the p.Met470Val polymorphism (indicated by Met470 homozygosity), appear to be involved in the etiology of idiopathic bronchiectasis in Serbian children.
  • These findings warrant further investigation with larger patient cohorts and comprehensive CFTR gene analysis.

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