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. 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. The T allele of the common polymorphism rs7817 and the rs7817-rs3807213 haplotype were associated with NP(p=0.002 and 0.004 respectively). These results showed the association of the IFRD1-rs7817 polymorphism with NP in CF patients.

IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients

BALDAN, Alessandro
;
LO PRESTI, Anna Rita;BELPINATI, Francesca;CASTELLANI, CARLO;BETTIN, Maria Demelza;XUMERLE, Luciano;PIGNATTI, Pierfranco;MALERBA, Giovanni;BOMBIERI, Cristina
2015-01-01

Abstract

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. 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. The T allele of the common polymorphism rs7817 and the rs7817-rs3807213 haplotype were associated with NP(p=0.002 and 0.004 respectively). These results showed the association of the IFRD1-rs7817 polymorphism with NP in CF patients.
cystic fibrosis, nasal polyposis, IFRD1, modifier genes
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/929834
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