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Neutrophil elastase gene polymorphisms: modulators of response to therapy in childhood bronchiectasis?

Aleksandra Nikolic1, Katarina Milosevic, Srdjan Boskovic

  • 1Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444A, PO Box 23, 11010, Belgrade, Serbia, aleksni@imgge.bg.ac.rs.

Lung
|May 13, 2014
PubMed

Insights

Genetic variations in the neutrophil elastase (ELANE) gene promoter influence treatment outcomes in children with idiopathic bronchiectasis. High-activity ELANE genotypes correlate with improved therapeutic response, indicated by significant changes in fractional exhaled nitric oxide (FeNO) levels.

Area of Science:

  • Genetics
  • Pulmonology
  • Pediatrics

Background:

  • Idiopathic bronchiectasis affects children, necessitating effective therapeutic strategies.
  • Neutrophil elastase (ELANE) gene polymorphisms are investigated for their role in disease modulation.
  • Understanding genetic influences can optimize treatment for pediatric bronchiectasis.

Purpose of the Study:

  • To investigate ELANE gene promoter polymorphisms as modulators of therapeutic response in children with idiopathic bronchiectasis.
  • To assess the correlation between ELANE genotypes and treatment efficacy.
  • To evaluate the impact of ELANE polymorphisms on fractional exhaled nitric oxide (FeNO) levels.

Main Methods:

  • Study included 48 children (5-17 years) diagnosed with idiopathic bronchiectasis.
  • Therapy involved antibiotics, anti-inflammatory drugs, expectorants, and postural drainage.
  • ELANE promoter polymorphisms analyzed via PCR-direct DNA sequencing; treatment response measured by FeNO level changes.

Main Results:

  • Children were categorized into low/intermediate (n=18) and high (n=30) ELANE activity genotype groups.
  • High-activity genotype group exhibited significantly higher initial FeNO levels (p=0.006).
  • Significant improvement in FeNO levels post-therapy was observed in the high-activity genotype group (p=0.002), with a positive correlation (r=0.350, p=0.015).

Conclusions:

  • Children with high-activity ELANE genotypes present with elevated initial FeNO levels.
  • High-activity ELANE genotypes are associated with a superior therapeutic response in pediatric idiopathic bronchiectasis.
  • ELANE gene promoter polymorphisms are significant predictors of treatment outcomes in this patient population.
Abstract

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