title: The CFTR M470V gene variant as a potential modifier of COPD severity: study of Serbian population.
abstract: Chronic obstructive pulmonary disease (COPD) is a complex disease influenced by genetic and environmental factors. Cystic fibrosis transmembrane conductance regulator (CFTR) protein is an important component of the lung tissue homeostasis, involved in the regulation of the rate of mucociliary clearance. As it is known that certain CFTR variants have consequences on the function of CFTR protein, the aim of this study was to examine the possible role of F508del, M470V, Tn locus, and R75Q variants in COPD development and modulation. Total number of 86 COPD patients and 102 control subjects were included in the study. Possible association between COPD susceptibility, severity, and onset of the disease and allele or genotype of four analyzed CFTR variants was examined. No associations were detected between COPD development, onset of the disease and tested CFTR alleles and genotypes. However, VV470 genotype was associated with mild/moderate COPD stages in comparison to severe/very severe ones (OR = 0.29, 95%CI = 0.11-0.80, p = 0.016). Our study showed that patients with VV470 genotype had a 3.4-fold decreased risk for the appearance of severe/very severe COPD symptoms, and the obtained results indicate that this genotype may have a protective role. These results also suggest the importance of studying CFTR gene as a modifier of this disease.
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia. marijamst@yahoo.com
authors.forename: Marija
authors.initials: M
authors.lastname: Stankovic
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Nikolic
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Divac
authors.forename: Andrija
authors.initials: A
authors.lastname: Tomovic
authors.forename: Natasa
authors.initials: N
authors.lastname: Petrovic-Stanojevic
authors.forename: Marina
authors.initials: M
authors.lastname: Andjelic
authors.forename: Vesna
authors.initials: V
authors.lastname: Dopudja-Pantic
authors.forename: Mirjana
authors.initials: M
authors.lastname: Surlan
authors.forename: Ivan
authors.initials: I
authors.lastname: Vujicic
authors.forename: Dimitrije
authors.initials: D
authors.lastname: Ponomarev
authors.forename: Marija
authors.initials: M
authors.lastname: Mitic-Milikic
authors.forename: Jelena
authors.initials: J
authors.lastname: Kusic
authors.forename: Dragica
authors.initials: D
authors.lastname: Radojkovic
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D044382:Population Groups / Q000235:genetics*; D029424:Pulmonary Disease, Chronic Obstructive / Q000453:epidemiology* / Q000235:genetics*; D012307:Risk Factors; D055771:Serbia; D012720:Severity of Illness Index
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator