Objective: We investigated the association between single-nucleotide polymorphisms in regulation of telomere elongation helicase 1 (RTEL1 ), which has been associated with telom­ere length in several brain cancers and age-related diseases, and the risk of chronic obstructive pulmonary disease (COPD) in a Chinese Han population.
Methods: In a case–control study that included 279 COPD cases and 290 healthy controls, five single-nucleotide polymorphisms in RTEL1  were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender.
Results: In the genotype model analysis, we determined that rs4809324 polymorphism had a decreased effect on the risk of COPD (CC versus TT: OR =0.28; 95% CI =0.10–0.82; P =0.02). In the genetic model analysis, we found that the “C/C” genotype of rs4809324 was associated with a decreased risk of COPD based on the codominant model (OR =0.33; 95% CI =0.13–0.86; P =0.022) and recessive model (OR =0.32; 95% CI =0.12–0.80; P =0.009).
Conclusion: Our data shed new light on the association between genetic polymorphisms of RTEL1  and COPD susceptibility in the Chinese Han population.
Keywords: RTEL1 , chronic obstructive pulmonary disease, COPD, gene polymorphisms, association study, case-control study