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 language | English |
|---|---|
| Pages (from-to) | 665-670 |
| Number of pages | 6 |
| Journal | Genes and Immunity |
| Volume | 11 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - Dec 2010 |
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Keywords
- cystic fibrosis
- gene polymorphism
- innate immunity
- modifier genes
- pentraxin 3
- Pseudomonas aeruginosa
ASJC Scopus subject areas
- Genetics(clinical)
- Immunology
- Genetics
Cite this
PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients. / 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.
In: Genes and Immunity, Vol. 11, No. 8, 12.2010, p. 665-670.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients
AU - Chiarini, M.
AU - Sabelli, C.
AU - Melotti, P.
AU - Garlanda, C.
AU - Savoldi, G.
AU - Mazza, C.
AU - Padoan, R.
AU - Plebani, A.
AU - Mantovani, A.
AU - Notarangelo, L. D.
AU - Assael, B. M.
AU - Badolato, R.
PY - 2010/12
Y1 - 2010/12
N2 - 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.
AB - 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.
KW - cystic fibrosis
KW - gene polymorphism
KW - innate immunity
KW - modifier genes
KW - pentraxin 3
KW - Pseudomonas aeruginosa
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U2 - 10.1038/gene.2010.41
DO - 10.1038/gene.2010.41
M3 - Article
VL - 11
SP - 665
EP - 670
JO - Genes and Immunity
JF - Genes and Immunity
SN - 1466-4879
IS - 8
ER -