Department of Pulmonogy, Erciyes University Faculty of Medicine, Kayseri, Türkiye.
Clinic of Medical Biology and Genetics, Kayseri Training and Research City Hospital, Kayseri, Türkiye.
Tuberk Toraks. 2023 Mar;71(1):34-40. doi: 10.5578/tt.20239905.
The genetic risk factors for Coronavirus disease-2019 (COVID19)-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.
Forty-eight patients who were matched for age, gender, 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, collagen 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.
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.
Individuals with TERT mutations may be at a higher risk for CAPF. Further studies are needed to clarify the genetic risk factors for CAPF.
新型冠状病毒病 2019（COVID19）相关肺纤维化（CAPF）的遗传危险因素尚不清楚。端粒酶逆转录酶（TERT）和粘蛋白 5B（MUC5B）基因的突变是肺纤维化的已知遗传危险因素。在这项研究中，我们旨在表明肺纤维化的最常见已知突变是否会影响 CAPF 的发展。
我们前瞻性地随访了 48 名因 COVID-19 而需要高流量鼻导管、无创性机械通气或有创性机械通气的患者，这些患者的年龄、性别、COVID-19 疾病严重程度和呼吸支持类型相匹配。由于已知的结构性肺疾病、胶原组织疾病和职业性纤维化暴露，有 18 名患者在随访中被排除。出院后三个月对患者进行 CT 随访，并对出现纤维化（n=15）的患者进行 CAPF 组评估，对完全缓解（n=15）的患者进行对照组评估。采集血液样本进行基因分析。
TERT 基因研究显示，纤维化组中 6 例（40%）正常，5 例为杂合子（33.3%）。MUC5B 多态性在纤维化组的 10 例（66.7%）中未检测到。
携带 TERT 突变的个体可能患 CAPF 的风险更高。需要进一步的研究来阐明 CAPF 的遗传危险因素。
