Pulmonary phenotypes associated with genetic variation in telomere-related genes

Hoffman, Thijs W.; Moorsel, Coline H.M. van; Borie, R.; Crestani, Bruno

doi:10.1097/mcp.0000000000000475

Cited by 56 publications

(41 citation statements)

References 83 publications

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“…Defects in telomerase result in extremely short telomeres and lead to abnormal DNA repair, or DNA degradation, and eventually to cellular senescence, a phenomenon known to be involved in acute wound healing as well as in lung fibrosis [7][8][9][10][11][12]. In families carrying TERT mutations, pulmonary fibrosis was shown to be the most common disease manifestation [13]. Moreover, it was shown that not the presence of the mutation itself, but the resulting short telomeres were associated with development of fibrosis [14].…”

Section: Introductionmentioning

confidence: 99%

From organ to cell: Multi-level telomere length assessment in patients with idiopathic pulmonary fibrosis

et al. 2020

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Rationale A subset of patients with idiopathic pulmonary fibrosis (IPF) contains short leukocyte telomeres or telomere related mutations. We previously showed that alveolar type 2 cells have short telomeres in fibrotic lesions. Our objectives were to better understand how telomere shortening associates with fibrosis in IPF lung and identify a subset of patients with telomere-related disease. Methods Average telomere length was determined in multiple organs, basal and apical lung, and diagnostic and end-stage fibrotic lung biopsies. Alveolar type 2 cells telomere length was determined in different areas of IPF lungs. Results In IPF but not in controls, telomere length in lung was shorter than in other organs, providing rationale to focus on telomere length in lung. Telomere length did not correlate with age and no difference in telomere length was found between diagnostic and explant lung or between basal and apical lung, irrespective of the presence of a radiological apicobasal gradient or fibrosis. Fifteen out of 28 IPF patients had average lung telomere length in the range of patients with a telomerase (TERT) mutation, and formed the IPF short group. Only in this IPF short and TERT group telomeres of alveolar type 2 cells were extremely short in fibrotic areas. Additionally, whole exome sequencing of IPF patients revealed two genetic variations in RTEL1 and one in PARN in the IPF short group.

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Section: Introductionmentioning

confidence: 99%

From organ to cell: Multi-level telomere length assessment in patients with idiopathic pulmonary fibrosis

et al. 2020

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“…It is conceivable that poor outcomes from COVID-19 could be linked to short telomeres, as has been reported with pulmonary fibrosis, ARDS, and sepsis. 42,43 It is also possible that younger individuals may have differential susceptibility to SARS-CoV-2. Interestingly, in the rat lung, angiotensin converting enzyme-2 expression decreases with age.…”

Section: Study Typementioning

confidence: 99%

COVID-19 Infection

et al. 2020

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Healthcare systems worldwide are responding to Coronavirus Disease 2019 (COVID-19), an emerging infectious syndrome caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) virus. Patients with COVID-19 can progress from asymptomatic or mild illness to hypoxemic respiratory failure or multisystem organ failure, necessitating intubation and intensive care management. Healthcare providers, and particularly anesthesiologists, are at the frontline of this epidemic, and they need to be aware of the best available evidence to guide therapeutic management of patients with COVID-19 and to keep themselves safe while doing so. Here, the authors review COVID-19 pathogenesis, presentation, diagnosis, and potential therapeutics, with a focus on management of COVID-19–associated respiratory failure. The authors draw on literature from other viral epidemics, treatment of acute respiratory distress syndrome, and recent publications on COVID-19, as well as guidelines from major health organizations. This review provides a comprehensive summary of the evidence currently available to guide management of critically ill patients with COVID-19.

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“…Agena MassARRAY Assay Design Software (version 3.0, Agena Bioscience, USA) was used to design multiplexed SNP MassEXTEND assay. And Agena MassARRAY RS100 was used to detect SNP genotyping (20,21).…”

Section: Selection and Genotyping Of Snpsmentioning

confidence: 99%

Contribution of IL9, IL2RA and IL2RB genetic polymorphisms in coronary heart disease in Chinese Han population

Chen

Wang

Zhang

et al. 2019

Preprint

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Background: Coronary heart disease (CHD) is one of the leading causes of disability and death worldwide. In the pathogenesis of CHD, inflammatory cytokines take an essential part. This study was designed to detect the potential association between IL-9, IL-2RA and IL-2RB variants and CHD in Chinese Han population. Methods: This case-control study conducted 499 CHD patients and 496 healthy controls. Seven selected SNPs were genotyped to investigate the possible association between the polymorphisms and the CHD risk. The interaction of SNP-SNP in the CHD risk was analyzed by Multifactor dimensionality reduction (MDR). Results: We observed an association between IL-9 rs55692658 (OR = 1.72, p = 0.003) and the increased CHD risk. The stratification analysis by age indicated that no matter participants who were older or younger than 61 years, IL-9 rs55692658 and IL-2RB rs1573673 contributed to the CHD susceptibility significantly (p < 0.05, respectively). IL-9 rs55692658 showed an increasing-risk effect (OR = 2.32, p = 0.003), while IL-2RA rs12722498 was correlated with the decreased susceptibility of CHD (OR = 0.54, p = 0.033) in female. Furthermore, IL-2RA rs12569923 was related to the diabetes risk in the CHD patients (OR = 1.50, p = 0.028). MDR analysis revealed a positive interaction between the SNPs. Conclusion: The present study firstly demonstrated that IL-9 rs55692658，IL-2RA rs12569923, rs12722498 and IL-2RB rs3218264 polymorphisms might be related to CHD. The results required further validation by larger studies.

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Pulmonary phenotypes associated with genetic variation in telomere-related genes

Cited by 56 publications

References 83 publications

From organ to cell: Multi-level telomere length assessment in patients with idiopathic pulmonary fibrosis

From organ to cell: Multi-level telomere length assessment in patients with idiopathic pulmonary fibrosis

COVID-19 Infection

Contribution of IL9, IL2RA and IL2RB genetic polymorphisms in coronary heart disease in Chinese Han population

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