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The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children

Deniz Doğru1, Filiz Ozbaş Gerçeker, Ebru Yalçin

  • 1Pediatric Pulmonary Medicine Unit, Faculty of Medicine, Hacettepe University, Ankara, Turkey. ddogru@hacettepe.edu.tr

Pediatric Pulmonology
|January 25, 2007
PubMed

Insights

Genetic variations in the Transporter associated with antigen presentation (TAP) gene may contribute to idiopathic bronchiectasis. Early consideration of TAP deficiency syndrome in children can improve outcomes.

Area of Science:

  • Immunogenetics
  • Pulmonology

Background:

  • Bronchiectasis involves permanent airway changes, often with unidentified causes.
  • Consanguinity in some populations increases the risk of genetic predispositions.
  • Transporter associated with antigen presentation (TAP) deficiency syndrome causes recurrent infections leading to bronchiectasis.

Purpose of the Study:

  • To investigate the association between idiopathic bronchiectasis and polymorphisms in the TAP1 and TAP2 genes.

Main Methods:

  • DNA was extracted from 44 idiopathic bronchiectasis patients and 100 healthy controls.
  • Genotyping for TAP1 and TAP2 gene polymorphisms was performed.
  • Allele and genotype frequencies were compared between patient and control groups.

Main Results:

  • Significant differences in genotype frequencies for TAP1 (333, 637) and TAP2 (379, 665) polymorphisms were observed between patients and controls.
  • Specific genotypes were found to be decreased or increased in the bronchiectasis group.
  • No significant difference was found for the TAP2-565 polymorphism.

Conclusions:

  • TAP gene polymorphisms may play a role in the development of bronchiectasis.
  • TAP deficiency syndrome should be considered in children diagnosed with idiopathic bronchiectasis for timely intervention.
  • Early diagnosis and management can enhance quality of life and survival rates.

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