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Original research
Telomerase gene variants and telomere shortening in patients with silicosis or asbestosis
  1. Yali Fan1,
  2. Chunming Zheng2,
  3. Na Wu1,
  4. Yihua Li1,
  5. Xiaoyun Huang1,
  6. Qiao Ye1
  1. 1 Department of Occupational Medicine and Toxicology, Clinical Center for Interstitial Lung Diseases, Beijing Institute of Respiratory Medicine, Beijing Chao-Yang Hospital, Capital Medical University, Beijing Chao-Yang Hospital, Capital Medical University, No.8 Worker’s Stadium, Chaoyang District. Beijing, China
  2. 2 Medical Research Center, Beijing Institute of Respiratory Medicine, Beijing Chao-Yang Hospital, Capital Medical University, No.8 Worker’s Stadium, Chaoyang District, Bejing, China
  1. Correspondence to Professor Qiao Ye, Department of Occupational Medicine and Toxicology, Clinical Center for Interstitial Lung Diseases, Beijing Institute of Respiratory Medicine, Beijing Chao-Yang Hospital，Capital Medical University, Beijing, China; yeqiao_chaoyang{at}sina.com

Abstract

Objectives Telomerase gene variants that lead to accelerated telomere shortening are linked to progressive-fibrosing interstitial lung diseases. However, little is known about their relationships with pneumoconiosis. This study aimed to identify TERT/TERC variants and leucocyte telomere lengths (LTL) in patients with silicosis or asbestosis.

Methods In the present study, Sanger sequencing of TERT/TERC variants was performed in 193 Chinese Han patients with pneumoconiosis, including 109 with silicosis and 84 with asbestosis. Quantitative PCR was used to measure LTL in peripheral blood of the patients and 200 age and sex-matched healthy controls.

Results In total, 7.3% patients with pneumoconiosis had 17 TERT/TERC variants. Among which 8.3% of patients with silicosis and 3.6% of patients with asbestosis had TERT variants, respectively. No TERC variants were detected in silicosis, whereas 3.6% of patients with asbestosis had TERC variants. Telomeres were significantly shorter in the patients with pneumoconiosis compared with healthy controls (p<0.001). No significant differences in LTL were found between TERT/TERC variant carriers and non-carriers. Exposure to silica dust was associated with the severity of pneumoconiosis after adjusting for covariates (OR 4.92, p=0.002). However, TERT/TERC variants and short telomeres were not associated with the severity of pneumoconiosis.

Conclusion Telomerase gene variants and short telomeres may be identified in the patients with silicosis and asbestosis in response to the exposure to silica or asbestos dust but are not related to disease severity.

  • clinical medicine
  • occupational health
  • asbestos
  • dust
  • mutation

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

https://doi.org/10.1136/oemed-2020-107046

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    Data availability statement

    All data relevant to the study are included in the article or uploaded as supplementary information.

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    Footnotes

    • Contributors Y Fan performed all data collection, analysing the samples and wrote the manuscript. C Zheng and N Wu were responsible for analysing the samples. Y Li and X Huang were responsible for recruiting the patients. Q Ye contributed as primary investigator and was responsible for designing the study, recruiting the patients and writing the manuscript. All authors read and approved the final manuscript. All authors contributed to data interpretation, read and approved the final manuscript.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.