PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients

M. Chiarini, C. Sabelli, P. Melotti, C. Garlanda, G. Savoldi, C. Mazza, R. Padoan, A. Plebani, A. Mantovani, L. D. Notarangelo, B. M. Assael, R. Badolato

Research output: Contribution to journalArticle

Abstract

Cystic fibrosis (CF) is a common life-threatening autosomal recessive disorder in the Caucasian population, and the gene responsible is the CF transmembrane conductance regulator (CFTR). Patients with CF have repeated bacterial infection of the airways caused by Pseudomonas aeruginosa (PA), which is one of the predominant pathogen, and endobronchial chronic infection represents a major cause of morbidity and mortality. Pentraxin 3 (PTX3) is a gene that encodes the antimicrobial protein, PTX3, which is believed to have an important role in innate immunity of lung. To address the role of PTX3 in the risk of PA lung colonization, we investigated five single nucleotide polymorphisms of PTX3 gene in 172 Caucasian CF patients who were homozygous for the F508del mutation. We observed that PTX3 haplotype frequencies were significantly different between patients with PA colonization, as compared with noncolonized patients. Moreover, a protective effect was found in association with a specific haplotype (odds ratio 0.524). Our data suggest that variations within PTX3 affect lung colonization of Pseudomonas in patients with CF.

Original languageEnglish
Pages (from-to)665-670
Number of pages6
JournalGenes and Immunity
Volume11
Issue number8
DOIs
Publication statusPublished - Dec 2010

    Fingerprint

Keywords

  • cystic fibrosis
  • gene polymorphism
  • innate immunity
  • modifier genes
  • pentraxin 3
  • Pseudomonas aeruginosa

ASJC Scopus subject areas

  • Genetics(clinical)
  • Immunology
  • Genetics

Cite this

Chiarini, M., Sabelli, C., Melotti, P., Garlanda, C., Savoldi, G., Mazza, C., Padoan, R., Plebani, A., Mantovani, A., Notarangelo, L. D., Assael, B. M., & Badolato, R. (2010). PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients. Genes and Immunity, 11(8), 665-670. https://doi.org/10.1038/gene.2010.41