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Front. Med. | doi: 10.3389/fmed.2018.00041

TERT polymorphism rs2736100: a balancing act between cancer and non-cancer disease, a meta-analysis

  • 1Department of Pulmonology, St. Antonius Ziekenhuis, Netherlands
  • 2Department of Pathology, St. Antonius Ziekenhuis, Netherlands
  • 3Division of Heart and Lung, University, University Medical Center Utrecht, Netherlands

The enzyme telomerase reverse transcriptase (TERT) is essential for telomere maintenance. In replicating cells, maintenance of telomere length is important for the preservation of vital genetic information and prevention of genomic instability. A common genetic variant in TERT, rs2736100 C/A, is associated with both telomere length and multiple diseases. Carriage of the C-allele is associated with longer telomere length, while carriage of the A- allele is associated with shorter telomere length. Furthermore, some diseases have a positive association with the C and some with the A allele. In this study, meta-analyses were performed for two groups of diseases, cancerous diseases, e.g. lung cancer and non-cancerous diseases, e.g. pulmonary fibrosis, using data from genome wide association studies and case-control studies. In the meta-analysis it was found that cancer positively associated with the C allele (pooled OR 1.16 [95%CI 1.09-1.23]) and non-cancerous diseases negatively associate with the C allele (pooled OR 0.81 [95%CI 0.65-0.99]). This observation illustrates that the ambiguous role of telomere maintenance in disease hinges, at least in part, on a single locus in telomerase genes. The dual role of this SNP also emphasizes that therapeutic agents aimed at influencing telomere maintenance should be used with caution.

Keywords: Telomerase, Telomere, Cancer, SNP, degenerative disease

Received: 21 Dec 2017; Accepted: 06 Feb 2018.

Edited by:

Bethany B. Moore, University of Michigan, United States

Reviewed by:

Carlos Flores, Fundación Canaria Rafael Clavijo, Spain
Yong Huang, University of Chicago, United States  

Copyright: © 2018 Snetselaar, van Oosterhout, Grutters and Van Moorsel. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Coline H. Van Moorsel, St. Antonius Ziekenhuis, Department of Pulmonology, Nieuwegein, Netherlands,