
IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients
Author(s) -
Alessandro Baldan,
A.R. Lo Presti,
F. Belpinati,
C. Castellani,
M.D. Bettin,
Luciano Xumerle,
P.R. Pignatti,
Giovanni Malerba,
C. Bombieri
Publication year - 2015
Publication title -
rhinology (amsterdam. online)/rhinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.275
H-Index - 57
eISSN - 1996-8604
pISSN - 0300-0729
DOI - 10.4193/rhino14.229
Subject(s) - medicine , haplotype , single nucleotide polymorphism , cystic fibrosis , allele , gastroenterology , genotype , polymorphism (computer science) , gene , nasal polyps , immunology , genetics , biology
Background: Nasal polyposis (NP) is an inflammatory disease of the upper nasal airways frequently present in CF patients. Interferon-Related Developmental Regulator 1 (IFRD1) gene was reported as a possible modifier of CF lung disease severity. Three IFRD1 SNPs were analyzed to investigate a possible effect on the development of NP in CF patients. Methods and patients: The DNA of 143 patients with CF (40 with and 103 without NP) was purified from peripheral blood samples. IFRD1 SNPs (rs7817, rs3807213, rs6968084) were genotyped by restriction enzyme analysis. Results: The T allele of the common polymorphisms rs7817 and the rs7817-rs3807213 haplotype were associated with NP (p = 0.002 and 0.004, respectively). Conclusions: These results showed the association of the IFRD1-rs7817 polymorphism with NP in CF patients.