TERT 基因多态性与中国黎族人群慢性阻塞性肺疾病风险相关。
TERT gene polymorphisms are associated with chronic obstructive pulmonary disease risk in the Chinese Li population.
机构信息
Department of General Practice, Hainan General Hospital, Haikou, China.
Hainan General Hospital, University of South China, Haikou, China.
出版信息
Mol Genet Genomic Med. 2019 Aug;7(8):e773. doi: 10.1002/mgg3.773. Epub 2019 Jul 3.
BACKGROUND
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.
METHODS
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.
RESULTS
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).
CONCLUSION
Our data shed new light on the association between TERT SNPs and COPD susceptibility in the Chinese Li population.
背景
慢性阻塞性肺疾病（COPD）是全球发病率和死亡率的主要原因之一，其特征为部分气流受限可逆转。目前，许多研究提出 COPD 与遗传和环境因素均有关。据报道，端粒酶的种系突变是 COPD 易感性的危险因素。在这项研究中，我们通过中国黎族人群的病例对照研究验证了 TERT 多态性与 COPD 风险的关联。
方法
共纳入 279 例 COPD 患者和 290 例对照个体。我们鉴定了 TERT 中与 COPD 相关的 5 个单核苷酸多态性（SNP）。在调整年龄和性别后，使用 logistic 回归模型计算比值比（OR）和 95%置信区间（CI），以评估关联。
结果
在遗传模型分析中，我们发现 TERT 中 rs10069690 的“C/T-T/T”基因型在显性模型中与 COPD 风险增加相关（p=0.046）；TERT 中的 rs2853677 基于共显性模型（“A/G”基因型，p=0.033）、显性模型（A/G-G/G 基因型，p=0.0091）和对数加性模型（p=0.023）与 COPD 风险增加显著相关。TERT 中的 rs2853676 可在显性模型（“C/T-T/T”基因型，p=0.026）和对数加性模型（p=0.022）中增加 COPD 的发病风险。
结论
我们的数据为 TERT SNP 与中国黎族人群 COPD 易感性之间的关联提供了新的视角。
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