TLR2和TLR9基因的同义突变降低了中国汉族人群对慢性阻塞性肺病的易感性

IF 10.4 2区医学 Q1 RESPIRATORY SYSTEM Pulmonology Pub Date : 2024-05-01 DOI:10.1016/j.pulmoe.2022.09.010

X. Ding , Q. Lin , J. Zhao , Y. Fu , Y. Zheng , R. Mo , L. Zhang , B. Zhang , J. Chen , T. Xie , H. Wu , Y. Ding

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引用次数: 0

摘要

导言以往的研究发现，一些候选基因的多态性与慢性阻塞性肺病（COPD）风险之间存在关联。方法使用 Agena MassARRAY 系统对 540 名慢性阻塞性肺病患者和 507 名健康对照者的 TLR2 和 TLR9 基因的四个变体（rs352140、rs3804099、rs3804100 和 rs5743705）进行基因分型。结果 TLR9-rs352140、TLR2-rs3804100和TLR2-rs5743705与中国人患慢性阻塞性肺病的风险较低有关，且经Bonferroni校正后仍有显著性。此外，rs3804099、rs3804100 和 rs352140 与不同亚组（男性、年龄小于 68 岁、吸烟者、体重指数为 24 kg/m2、急性加重）的慢性阻塞性肺病发病相关。

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Synonymous mutations in TLR2 and TLR9 genes decrease COPD susceptibility in the Chinese Han population

Introduction

Previous studies have found associations between polymorphisms in some candidate genes and chronic obstructive pulmonary disease (COPD) risk. However, the association between TLR2 and TLR9 polymorphisms and COPD risk remains uncertain.

Methods

Four variants (rs352140, rs3804099, rs3804100, and rs5743705) of the TLR2 and TLR9 genes in 540 COPD patients and 507 healthy controls were genotyped using the Agena MassARRAY system. Odds ratio (OR) and 95% confidence interval (CI) were calculated to assess the association of TLR2 and TLR9 polymorphisms with COPD risk by logistic regression analysis.

Results

TLR9-rs352140, TLR2-rs3804100, and TLR2-rs5743705 were related to a lower risk of COPD among Chinese people and the significance still existed after Bonferroni correction. Additionally, rs3804099, rs3804100, and rs352140 were found to be associated with COPD development in different subgroups (males, age ≤ 68 years, smokers, BMI < 24 kg/m², and acute exacerbation).

Conclusions

Our findings indicated that TLR9 and TLR2 polymorphisms had protective effects on the development of COPD among Chinese people.

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来源期刊

Pulmonology Medicine-Pulmonary and Respiratory Medicine

CiteScore

14.30

自引率

5.10%

发文量

159

审稿时长

19 days

期刊介绍： Pulmonology (previously Revista Portuguesa de Pneumologia) is the official journal of the Portuguese Society of Pulmonology (Sociedade Portuguesa de Pneumologia/SPP). The journal publishes 6 issues per year and focuses on respiratory system diseases in adults and clinical research. It accepts various types of articles including peer-reviewed original articles, review articles, editorials, and opinion articles. The journal is published in English and is freely accessible through its website, as well as Medline and other databases. It is indexed in Science Citation Index Expanded, Journal of Citation Reports, Index Medicus/MEDLINE, Scopus, and EMBASE/Excerpta Medica.