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欧洲和东亚人群中儿童哮喘与慢性阻塞性肺疾病的孟德尔随机化研究。

Mendelian randomization study of childhood asthma and chronic obstructive pulmonary disease in European and East Asian population.

作者信息

Fan Guo Zhen, Chen Ke Yang, Liu Xiao Meng, Qu Zheng Hai

机构信息

Department of Pediatrics, The Affiliated Hospital of Qingdao University, Qingdao, China.

First Clinical Medical College of Anhui Medical University, Hefei, China.

出版信息

World Allergy Organ J. 2024 Aug 24;17(9):100960. doi: 10.1016/j.waojou.2024.100960. eCollection 2024 Sep.

DOI:10.1016/j.waojou.2024.100960
PMID:39262898
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11388792/
Abstract

OBJECTIVE

The present study aimed to explore the potential causal relationship between childhood asthma and chronic obstructive pulmonary disease (COPD) in European and East Asian populations with Mendelian randomization (MR) analysis.

METHODS

Based on summary data from genome-wide association studies, single nucleotide polymorphisms (SNPs) associated with childhood asthma were used as instrumental variables. The MR analysis employed the inverse variance weighting, MR-Egger regression and weighted median method to estimate the causal effect between childhood asthma and COPD in European and East Asian populations. Cochran's Q test, MR-PRESSO method and MR-Egger intercept were used to detect heterogeneity, outliers and horizontal pleiotropy, respectively. Leave-one-out analysis applied to assess the effect of removing individual SNP on the estimate of causal association.

RESULTS

The MR analysis showed no genetic causal relationship between childhood asthma and COPD. The results of Cochran's Q test, MR-PRESSO and MR-Egger regression indicated the absence of heterogeneity, outliers and horizontal pleiotropy, respectively. Leave-one-out analysis showed no significant difference in the statistical results after exclusion of single SNPs.

CONCLUSIONS

The MR analysis revealed that there is no causal relationship between childhood asthma and COPD at the genetic level in both European and East Asian populations. Additionally, due to the presence of shared confounding factors and pathogenic genes, further research is needed to comprehensively assess the relationship between childhood asthma and COPD.

摘要

目的

本研究旨在通过孟德尔随机化(MR)分析,探讨欧洲和东亚人群中儿童哮喘与慢性阻塞性肺疾病(COPD)之间潜在的因果关系。

方法

基于全基因组关联研究的汇总数据,将与儿童哮喘相关的单核苷酸多态性(SNP)用作工具变量。MR分析采用逆方差加权法、MR-Egger回归法和加权中位数法,以估计欧洲和东亚人群中儿童哮喘与COPD之间的因果效应。分别使用Cochran's Q检验、MR-PRESSO方法和MR-Egger截距来检测异质性、异常值和水平多效性。采用留一法分析评估去除单个SNP对因果关联估计的影响。

结果

MR分析显示儿童哮喘与COPD之间不存在遗传因果关系。Cochran's Q检验、MR-PRESSO和MR-Egger回归的结果分别表明不存在异质性、异常值和水平多效性。留一法分析显示,排除单个SNP后统计结果无显著差异。

结论

MR分析表明,在欧洲和东亚人群中,儿童哮喘与COPD在基因水平上不存在因果关系。此外,由于存在共同的混杂因素和致病基因,需要进一步研究以全面评估儿童哮喘与COPD之间的关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c95/11388792/30ee843de3aa/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c95/11388792/5b9394fa1813/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c95/11388792/6371671d1fa4/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c95/11388792/30ee843de3aa/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c95/11388792/5b9394fa1813/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c95/11388792/6371671d1fa4/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c95/11388792/30ee843de3aa/gr3.jpg

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