中国汉族人群中基因多态性与慢性阻塞性肺疾病易感性的关联
Association between gene polymorphisms and COPD susceptibility in a Chinese Han population.
作者信息
Ding Yipeng, Xu Heping, Yao Jinjian, Xu Dongchuan, He Ping, Yi Shengyang, Li Quanni, Liu Yuanshui, Wu Cibing, Tian Zhongjie
机构信息
Department of Emergency, People's Hospital of Hainan Province, Haikou, Hainan, People's Republic of China.
出版信息
Int J Chron Obstruct Pulmon Dis. 2017 Mar 17;12:931-936. doi: 10.2147/COPD.S131246. eCollection 2017.
OBJECTIVE
We investigated the association between single-nucleotide polymorphisms in regulation of telomere elongation helicase 1 (), 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 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; =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; =0.022) and recessive model (OR =0.32; 95% CI =0.12-0.80; =0.009).
CONCLUSION
Our data shed new light on the association between genetic polymorphisms of and COPD susceptibility in the Chinese Han population.
目的
端粒延长解旋酶1（TERT）的单核苷酸多态性已在几种脑癌和与年龄相关的疾病中显示与端粒长度有关，我们研究了其与中国汉族人群慢性阻塞性肺疾病（COPD）风险之间的关联。
方法
在一项病例对照研究中，纳入了279例COPD患者和290例健康对照，选择了TERT基因中的5个单核苷酸多态性，并使用Sequenom MassARRAY平台进行基因分型。在调整年龄和性别后，采用非条件逻辑回归计算比值比（OR）和95%置信区间（CI）。
结果
在基因型模型分析中，我们确定rs4809324多态性对COPD风险有降低作用（CC与TT比较：OR =0.28；95%CI =0.10 - 0.82；P =0.02）。在遗传模型分析中，我们发现基于共显性模型（OR =0.33；95%CI =0.13 - 0.86；P =0.022）和隐性模型（OR =0.32；95%CI =0.12 - 0.80；P =0.009），rs4809324的“C/C”基因型与COPD风险降低相关。
结论
我们的数据为中国汉族人群中TERT基因多态性与COPD易感性之间的关联提供了新的线索。
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