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

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

来源：International Journal of Chronic Obstructive Pulmonary Disease, 2017, 12: 931-936.

DOI：10.2147/COPD.S131246

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

Objective: We investigated the association between single-nucleotide polymorphisms in regulation of telomere elongation helicase 1 (RTEL1), which has been associated with telom-ere 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.

• 出版日期2017
• 单位海南省人民医院