The CFTR M470V gene variant as a potential modifier of COPD severity: Study of Serbian population
Samo za registrovane korisnike
2008
Autori
Stanković, MarijaNikolić, Aleksandra
Divac Rankov, Aleksandra
Tomović, Andrija
Petrović-Stanojević, Nataša
Anđelić, Marina
Dopudja-Pantić, Vesna
Surlan, Mirjana
Vujicić, Ivan
Ponomarev, Dimitrije
Mitić-Milikić, Marija
Kušić-Tišma, Jelena
Radojković, Dragica
Članak u časopisu (Objavljena verzija)
Metapodaci
Prikaz svih podataka o dokumentuApstrakt
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 one...s (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.
Izvor:
Genetic Testing, 2008, 12, 3, 357-362Izdavač:
- Mary Ann Liebert, Inc, New Rochelle
Finansiranje / projekti:
- Strukturalni elementi genoma u modulaciji fenotipa (RS-MESTD-MPN2006-2010-143051)
DOI: 10.1089/gte.2007.0069
ISSN: 1090-6576
PubMed: 18652532
WoS: 000259230500006
Scopus: 2-s2.0-50649092671
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Stanković, Marija AU - Nikolić, Aleksandra AU - Divac Rankov, Aleksandra AU - Tomović, Andrija AU - Petrović-Stanojević, Nataša AU - Anđelić, Marina AU - Dopudja-Pantić, Vesna AU - Surlan, Mirjana AU - Vujicić, Ivan AU - Ponomarev, Dimitrije AU - Mitić-Milikić, Marija AU - Kušić-Tišma, Jelena AU - Radojković, Dragica PY - 2008 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/316 AB - 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. PB - Mary Ann Liebert, Inc, New Rochelle T2 - Genetic Testing T1 - The CFTR M470V gene variant as a potential modifier of COPD severity: Study of Serbian population EP - 362 IS - 3 SP - 357 VL - 12 DO - 10.1089/gte.2007.0069 ER -
@article{ author = "Stanković, Marija and Nikolić, Aleksandra and Divac Rankov, Aleksandra and Tomović, Andrija and Petrović-Stanojević, Nataša and Anđelić, Marina and Dopudja-Pantić, Vesna and Surlan, Mirjana and Vujicić, Ivan and Ponomarev, Dimitrije and Mitić-Milikić, Marija and Kušić-Tišma, Jelena and Radojković, Dragica", year = "2008", 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.", publisher = "Mary Ann Liebert, Inc, New Rochelle", journal = "Genetic Testing", title = "The CFTR M470V gene variant as a potential modifier of COPD severity: Study of Serbian population", pages = "362-357", number = "3", volume = "12", doi = "10.1089/gte.2007.0069" }
Stanković, M., Nikolić, A., Divac Rankov, A., Tomović, A., Petrović-Stanojević, N., Anđelić, M., Dopudja-Pantić, V., Surlan, M., Vujicić, I., Ponomarev, D., Mitić-Milikić, M., Kušić-Tišma, J.,& Radojković, D.. (2008). The CFTR M470V gene variant as a potential modifier of COPD severity: Study of Serbian population. in Genetic Testing Mary Ann Liebert, Inc, New Rochelle., 12(3), 357-362. https://doi.org/10.1089/gte.2007.0069
Stanković M, Nikolić A, Divac Rankov A, Tomović A, Petrović-Stanojević N, Anđelić M, Dopudja-Pantić V, Surlan M, Vujicić I, Ponomarev D, Mitić-Milikić M, Kušić-Tišma J, Radojković D. The CFTR M470V gene variant as a potential modifier of COPD severity: Study of Serbian population. in Genetic Testing. 2008;12(3):357-362. doi:10.1089/gte.2007.0069 .
Stanković, Marija, Nikolić, Aleksandra, Divac Rankov, Aleksandra, Tomović, Andrija, Petrović-Stanojević, Nataša, Anđelić, Marina, Dopudja-Pantić, Vesna, Surlan, Mirjana, Vujicić, Ivan, Ponomarev, Dimitrije, Mitić-Milikić, Marija, Kušić-Tišma, Jelena, Radojković, Dragica, "The CFTR M470V gene variant as a potential modifier of COPD severity: Study of Serbian population" in Genetic Testing, 12, no. 3 (2008):357-362, https://doi.org/10.1089/gte.2007.0069 . .