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中国人群慢性阻塞性肺疾病六个特定 SNP 的遗传变异。

Genetic variation of six specific SNPs of chronic obstructive pulmonary disease among Chinese population.

机构信息

The Fourth Clinical Medical College of Xinjiang Medical University, China; The COPD Laboratory of Clinical Research Base, Chinese Medicine Hospital of Xinjiang Uygur Autonomous Region, China.

The COPD Laboratory of Clinical Research Base, Chinese Medicine Hospital of Xinjiang Uygur Autonomous Region, China.

出版信息

Pulmonology. 2024 Mar-Apr;30(2):113-121. doi: 10.1016/j.pulmoe.2022.02.004. Epub 2022 Apr 29.

DOI:10.1016/j.pulmoe.2022.02.004
PMID:35501282
Abstract

BACKGROUND

Chronic obstructive pulmonary disease (COPD) is a chronic bronchitis (or) emphysema with a high disability and fatality rate. This study aimed to explore the correlation between the six selected single nucleotide polymorphisms (SNPs) and the risk of COPD in the Chinese population.

METHODS

The Agena MassARRAY platform was used to select six SNPs from 629 subjects for genotyping. The correlation between SNPs and COPD risk was evaluated using calculated odds ratios (ORs) and 95% confidence intervals (CIs). Multi-factor dimensionality reduction (MDR) was performed to analyze the impact of SNP interactions on COPD risk. Multiple comparisons were performed using Bonferroni- correction.

RESULTS

Our results indicated that rs4719841 and rs7934083 variants were associated with a reduced risk of COPD. The analysis results of age, gender and non-smokers showed that rs4719841 and rs7934083 were associated with reducing the risk of COPD. In addition, the results showed that the genetic models of rs4719841, rs7934083 and rs7780562 were related to the forced vital capacity, respiratory rate per second, and respiratory rate / forced vital capacity of COPD patients, respectively. The results of the MDR analysis showed that the three-locus model (rs4719841, rs7934083, and rs78750958) is the best for COPD risk assessment.

CONCLUSION

This study shows that rs4719841 and rs7934083 are associated with the risk of COPD in the Chinese population, which provides some insights for early screening, prevention, and diagnosis of COPD in high-risk populations.

摘要

背景

慢性阻塞性肺疾病(COPD)是一种慢性支气管炎(或)肺气肿,具有较高的残疾和死亡率。本研究旨在探讨 629 例患者中 6 个选定的单核苷酸多态性(SNP)与 COPD 风险的相关性。

方法

使用 Agena MassARRAY 平台从 629 个样本中选择 6 个 SNP 进行基因分型。通过计算比值比(ORs)和 95%置信区间(CIs)评估 SNP 与 COPD 风险的相关性。多因素降维分析(MDR)用于分析 SNP 相互作用对 COPD 风险的影响。采用 Bonferroni 校正进行多重比较。

结果

我们的结果表明,rs4719841 和 rs7934083 变异与 COPD 风险降低相关。年龄、性别和非吸烟者的分析结果表明,rs4719841 和 rs7934083 与降低 COPD 风险相关。此外,结果表明,rs4719841、rs7934083 和 rs7780562 的遗传模型分别与 COPD 患者的用力肺活量、每秒呼吸率和呼吸频率/用力肺活量有关。MDR 分析结果表明,三基因座模型(rs4719841、rs7934083 和 rs78750958)是 COPD 风险评估的最佳模型。

结论

本研究表明,rs4719841 和 rs7934083 与中国人群 COPD 风险相关,为高危人群 COPD 的早期筛查、预防和诊断提供了一定的思路。

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