TERT gene polymorphisms are associated with chronic obstructive pulmonary disease risk in the Chinese Li population

Chronic obstructive pulmonary disease (COPD) is one of the leading causes of morbidity and mortality worldwide and is characterized by a partially reversible airflow limitation. Currently, many studies put forward that COPD is associated with both genetic and environmental factors. It has been reported that germline mutations in telomerase are risk factors for COPD susceptibility. In this study, we validated the association between TERT polymorphisms and COPD risk with a case-control study in the Chinese Li population.

A total of 279 COPD patients and 290 control individuals were recruited. We identified five single nucleotide polymorphisms (SNPs) in TERT that were associated with COPD. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in logistic regression models after adjusting for age and gender to assess the association.

In the genetic model analysis, we found the "C/T-T/T" genotype of rs10069690 in TERT was associated with an increased COPD risk in the dominant model (p = 0.046); the rs2853677 in TERT was significantly associated with increased COPD risk based on the codominant model ("A/G" genotype, p = 0.033), dominant model (A/G-G/G genotype, p = 0.0091), and log-additive model (p = 0.023). The rs2853676 in TERT could increase the risk of COPD in the dominant model ("C/T-T/T" genotype, p = 0.026) and in the Log-additive model (p = 0.022).

Our data shed new light on the association between TERT SNPs and COPD susceptibility in the Chinese Li population.