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Association between RTEL1 gene polymorphisms and COPD susceptibility in a Chinese Han population

Authors Ding YP, Xu HP, Yao JJ, Xu DC, He P, Yi SY, Li QN, Liu YS, Wu CB, Tian ZJ

Received 28 December 2016

Accepted for publication 28 February 2017

Published 17 March 2017 Volume 2017:12 Pages 931—936


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Dr Richard Russell

Yipeng Ding,* Heping Xu,* Jinjian Yao, Dongchuan Xu, Ping He, Shengyang Yi, Quanni Li, Yuanshui Liu, Cibing Wu, Zhongjie Tian

Department of Emergency, People’s Hospital of Hainan Province, Haikou, Hainan, People’s Republic of China

*These authors contributed equally to this work

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.

RTEL1, chronic obstructive pulmonary disease, COPD, gene polymorphisms, association study, case-control study

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