Article
Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease.
Scientific reports - 22 Feb 2021
Xu Jialin, de Oliveira Diego Madureira, Trudeau Matthew A, Yang Yang, Chin Jessica J Y, Sin Don D, Sandford Andrew J, Wong Judy M Y
Abstract excerpt
Chronic obstructive pulmonary disease (COPD) is a disorder of accelerated lung aging. Multiple pieces of evidence support that the aging biomarker short telomeres, which can be caused by mutations in telomerase reverse transcriptase (TERT), contribute to COPD pathogenesis. We hypothesized that short telomere risk-associated single nucleotide polymorphisms (SNPs) in TERT, while not able to drive COPD development,...
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