title: Analysis of DEFB1 regulatory SNPs in cystic fibrosis patients from North-Eastern Italy.
abstract: Cystic fibrosis (CF) transmembrane regulator protein (CFTR) gene is undoubtedly the main genetic factor involved in the modulation of CF phenotype. However, other factors such as human defensins and the genes encoding for these antimicrobial peptides have been hypothesized as possible modifiers influencing airways infection in CF patients, but their role in the pathogenesis of lung disease is still debated. Since DEFB1 gene encoding for human beta-defensin 1 displays features such as antimicrobial or chemotactic activity playing a role in inflammation, it has been considered as a possible candidate CF modifier gene. We analysed three single nucleotide polymorphisms (SNPs) in the 5'-untranslated region of the DEFB1 gene (namely g-52G>A, g-44C>G and g-20G>A) in a group of 62 CF patients from North Eastern Italy, and in 130 healthy controls, with the aim of verifying the possible association of these functional SNPs with the pulmonary phenotype of CF patients. DEFB1 SNPs have been genotyped by using Taqman allele-specific fluorescent probes and a real-time PCR platform. No significant differences were found for allele, genotype and haplotype frequencies of DEFB1 g-52G>A, g-44C>G and g-20G>A SNPs in CF patients stratified for Pseudomonas aeruginosa infection, as well as in patients with a severe and mild clinical phenotype or in patients stratified for CFTR genotypes. DEFB1 allele, genotype and haplotype frequencies of CF patients globally considered were similar to those of healthy controls. Our findings are discordant with respect to another recent study performed on CF patients coming from Southern Italy, probably due to different ethnicity of the patients.
authors.affiliation: Genetic Service, IRCCS Burlo Garofolo, Via dell'Istria 65/1, Trieste, Italy. segat@burlo.trieste.it
authors.forename: L
authors.initials: L
authors.lastname: Segat
authors.forename: M
authors.initials: M
authors.lastname: Morgutti
authors.forename: E
authors.initials: E
authors.lastname: Athanasakis
authors.forename: C
authors.initials: C
authors.lastname: Trevisiol
authors.forename: A
authors.initials: A
authors.lastname: Amaddeo
authors.forename: F
authors.initials: F
authors.lastname: Poli
authors.forename: S
authors.initials: S
authors.lastname: Crovella
mesh_terms: D020121:5' Untranslated Regions; D000293:Adolescent; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D003550:Cystic Fibrosis / Q000209:etiology / Q000235:genetics* / Q000276:immunology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007113:Immunity, Innate; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011552:Pseudomonas Infections / Q000150:complications / Q000235:genetics; D023083:beta-Defensins / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; C505032:CFTR protein, human; C406407:DEFB1 protein, human; D023083:beta-Defensins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator