Yıl: 2023 Cilt: 71 Sayı: 1 Sayfa Aralığı: 34 - 40 Metin Dili: İngilizce DOI: 10.5578/tt.20239905 İndeks Tarihi: 30-05-2023

Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?

Öz:
Introduction: The genetic risk factors for Coronavirus disease-2019 (COVID- 19)-associated pulmonary fibrosis (CAPF) are not clearly defined. Mutations in the genes encoding telomerase reverse transcriptase (TERT) and mucin 5B (MUC5B) are well-known genetic risk factors for pulmonary fibrosis. In this study, we aimed to show whether the most common proven mutations of pulmonary fibrosis affect the development of CAPF. Materials and Methods: Forty-eight patients who were matched for age, gen- der, COVID-19 disease severity, and respiratory support type and needed high flow nasal cannula, non-invasive mechanical ventilator, or invasive mechanical ventilator due to COVID-19 were followed up prospectively. Eighteen patients were excluded from the follow-up due to known structural lung disease, col- lagen tissue disease, and occupational exposure to fibrosis. The patients were called for follow-up three months after discharge, and CT was performed. Those with fibrosis (n= 15) in the third-month follow-up CT were included in the CAPF group, and those with complete resolution (n= 15) were included in the control group. Blood samples were taken for genetic analysis. Results: TERT gene study revealed that six (40%) of the fibrosis group was normal, while five were heterozygous (33.3%). MUC5B polymorphism was not detected in 10 (66.7%) of the fibrosis group. Conclusion: Individuals with TERT mutations may be at a higher risk for CAPF. Further studies are needed to clarify the genetic risk factors for CAPF.
Anahtar Kelime:

MUC5B ve TERT mutasyonları şiddetli COVID-19 olan bireylerde pulmoner fibrozis için genetik risk faktörleri midir?

Öz:
Giriş: Koronovirüs hastalığı-2019 (COVID-19) ile ilişkili pulmoner fibroz (CAPF) için genetik risk faktörleri net olarak tanımlanmamış- tır. Telomeraz ters transkriptaz (TERT) ve müsin 5B (MUC5B) kodlayan genlerdeki mutasyonlar, pulmoner fibroz için iyi bilinen genetik risk faktörleridir. Bu çalışmada pulmoner fibrozisin kanıtlanmış en yaygın mutasyonlarının CAPF gelişimi üzerine etkisinin olup olmadığını göstermeyi amaçladık. Materyal ve Metod: Yaş, cinsiyet, COVID-19 hastalık şiddeti ve solunum destek tipi açısından uyumlu ve COVID-19 nedeniyle yüksek akımlı nazal kanül, non-invaziv mekanik ventilatör veya invaziv mekanik ventilatör ihtiyacı olan 48 hasta prospektif olarak izlendi. On sekiz hasta, bilinen yapısal akciğer hastalığı, kollajen doku hastalığı ve mesleki fibrozise maruz kalma nedeniyle takipten çıkarıldı. Hastalar taburcu olduktan üç ay sonra kontrole çağrılarak BT çekildi. Üçüncü ay kontrol BT’sinde fibrozis (n= 15) olanlar CAPF grubuna, rezolüsyonu tam olanlar (n= 15) kontrol grubuna eklendi. Genetik analiz için kan örnekleri alındı. Bulgular: Fibrozis grubunun altısında (%40) TERT gen analizi normal, beşinde (%33,3) heterozigot bulundu. Fibrozis grubunun 10’unda (%66,7) MUC5B polimorfizmi saptanmadı. Sonuç: TERT mutasyonları olan kişiler CAPF için daha yüksek risk altında olabilir. CAPF için genetik risk faktörlerini netleştirmek için daha fazla çalışmaya ihtiyaç vardır.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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APA Yetkin N, Kiraz A, baran ketencioğlu b, bol c, tutar n (2023). Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. , 34 - 40. 10.5578/tt.20239905
Chicago Yetkin Nur Aleyna,Kiraz Aslihan,baran ketencioğlu burcu,bol canan,tutar nuri Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. (2023): 34 - 40. 10.5578/tt.20239905
MLA Yetkin Nur Aleyna,Kiraz Aslihan,baran ketencioğlu burcu,bol canan,tutar nuri Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. , 2023, ss.34 - 40. 10.5578/tt.20239905
AMA Yetkin N,Kiraz A,baran ketencioğlu b,bol c,tutar n Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. . 2023; 34 - 40. 10.5578/tt.20239905
Vancouver Yetkin N,Kiraz A,baran ketencioğlu b,bol c,tutar n Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. . 2023; 34 - 40. 10.5578/tt.20239905
IEEE Yetkin N,Kiraz A,baran ketencioğlu b,bol c,tutar n "Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?." , ss.34 - 40, 2023. 10.5578/tt.20239905
ISNAD Yetkin, Nur Aleyna vd. "Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?". (2023), 34-40. https://doi.org/10.5578/tt.20239905
APA Yetkin N, Kiraz A, baran ketencioğlu b, bol c, tutar n (2023). Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. Tüberküloz ve Toraks, 71(1), 34 - 40. 10.5578/tt.20239905
Chicago Yetkin Nur Aleyna,Kiraz Aslihan,baran ketencioğlu burcu,bol canan,tutar nuri Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. Tüberküloz ve Toraks 71, no.1 (2023): 34 - 40. 10.5578/tt.20239905
MLA Yetkin Nur Aleyna,Kiraz Aslihan,baran ketencioğlu burcu,bol canan,tutar nuri Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. Tüberküloz ve Toraks, vol.71, no.1, 2023, ss.34 - 40. 10.5578/tt.20239905
AMA Yetkin N,Kiraz A,baran ketencioğlu b,bol c,tutar n Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. Tüberküloz ve Toraks. 2023; 71(1): 34 - 40. 10.5578/tt.20239905
Vancouver Yetkin N,Kiraz A,baran ketencioğlu b,bol c,tutar n Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?. Tüberküloz ve Toraks. 2023; 71(1): 34 - 40. 10.5578/tt.20239905
IEEE Yetkin N,Kiraz A,baran ketencioğlu b,bol c,tutar n "Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?." Tüberküloz ve Toraks, 71, ss.34 - 40, 2023. 10.5578/tt.20239905
ISNAD Yetkin, Nur Aleyna vd. "Are MUC5B and TERT mutations genetic risk factors for pulmonary fibrosis in individuals with severe COVID-19?". Tüberküloz ve Toraks 71/1 (2023), 34-40. https://doi.org/10.5578/tt.20239905