High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease
2004
Аутори
Divac Rankov, AleksandraNikolić, Aleksandra
Mitić-Milikić, M.
Nagorni-Obradović, L.
Petrović-Stanojević, Nataša
Dopudja-Pantić, V.
Nadaskić, R.
Savić, A.
Radojković, Dragica
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
We performed the complete screening of the CFTR gene in a group of 31 patients with COPD in order to investigate the impact of mutations and polymorphisms in the CFTR gene. The cumulative frequency of CFTR mutations (17.74%) was significantly higher than in our general population (P lt 0.0001). The R75Q was significantly overrepresented in COPD patients (8.06%; P =0.002). In all patients carrying the R75Q chronic bronchitis was a dominant symptom of COPD, and all were homozygous for the V470 allele. These findings suggest that R75Q mutation could be characteristic CFTR variant for COPD patients.
Кључне речи:
R75Q / Chronic obstructive pulmonary disease (COPD) / CFTRИзвор:
Journal of Cystic Fibrosis, 2004, 3, 3, 189-191Издавач:
- Elsevier
Финансирање / пројекти:
- This work was supported by grant 1417 from Ministry for Science, Technologies and Development of Serbia.
DOI: 10.1016/j.jcf.2004.05.049
ISSN: 1569-1993
PubMed: 15463907
Scopus: 2-s2.0-4444360203
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Divac Rankov, Aleksandra AU - Nikolić, Aleksandra AU - Mitić-Milikić, M. AU - Nagorni-Obradović, L. AU - Petrović-Stanojević, Nataša AU - Dopudja-Pantić, V. AU - Nadaskić, R. AU - Savić, A. AU - Radojković, Dragica PY - 2004 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/199 AB - We performed the complete screening of the CFTR gene in a group of 31 patients with COPD in order to investigate the impact of mutations and polymorphisms in the CFTR gene. The cumulative frequency of CFTR mutations (17.74%) was significantly higher than in our general population (P lt 0.0001). The R75Q was significantly overrepresented in COPD patients (8.06%; P =0.002). In all patients carrying the R75Q chronic bronchitis was a dominant symptom of COPD, and all were homozygous for the V470 allele. These findings suggest that R75Q mutation could be characteristic CFTR variant for COPD patients. PB - Elsevier T2 - Journal of Cystic Fibrosis T1 - High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease EP - 191 IS - 3 SP - 189 VL - 3 DO - 10.1016/j.jcf.2004.05.049 ER -
@article{ author = "Divac Rankov, Aleksandra and Nikolić, Aleksandra and Mitić-Milikić, M. and Nagorni-Obradović, L. and Petrović-Stanojević, Nataša and Dopudja-Pantić, V. and Nadaskić, R. and Savić, A. and Radojković, Dragica", year = "2004", abstract = "We performed the complete screening of the CFTR gene in a group of 31 patients with COPD in order to investigate the impact of mutations and polymorphisms in the CFTR gene. The cumulative frequency of CFTR mutations (17.74%) was significantly higher than in our general population (P lt 0.0001). The R75Q was significantly overrepresented in COPD patients (8.06%; P =0.002). In all patients carrying the R75Q chronic bronchitis was a dominant symptom of COPD, and all were homozygous for the V470 allele. These findings suggest that R75Q mutation could be characteristic CFTR variant for COPD patients.", publisher = "Elsevier", journal = "Journal of Cystic Fibrosis", title = "High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease", pages = "191-189", number = "3", volume = "3", doi = "10.1016/j.jcf.2004.05.049" }
Divac Rankov, A., Nikolić, A., Mitić-Milikić, M., Nagorni-Obradović, L., Petrović-Stanojević, N., Dopudja-Pantić, V., Nadaskić, R., Savić, A.,& Radojković, D.. (2004). High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease. in Journal of Cystic Fibrosis Elsevier., 3(3), 189-191. https://doi.org/10.1016/j.jcf.2004.05.049
Divac Rankov A, Nikolić A, Mitić-Milikić M, Nagorni-Obradović L, Petrović-Stanojević N, Dopudja-Pantić V, Nadaskić R, Savić A, Radojković D. High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease. in Journal of Cystic Fibrosis. 2004;3(3):189-191. doi:10.1016/j.jcf.2004.05.049 .
Divac Rankov, Aleksandra, Nikolić, Aleksandra, Mitić-Milikić, M., Nagorni-Obradović, L., Petrović-Stanojević, Nataša, Dopudja-Pantić, V., Nadaskić, R., Savić, A., Radojković, Dragica, "High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease" in Journal of Cystic Fibrosis, 3, no. 3 (2004):189-191, https://doi.org/10.1016/j.jcf.2004.05.049 . .