新疆大学学报（自然科学版中英文）2026，Vol.43Issue(2)：196-207,12.DOI:10.13568/j.cnki.651094.651316.2025.09.16.0001
利用血液代谢物识别呼吸系统疾病的遗传因素
Using Blood Metabolites to Identify Genetic Factors in Respiratory Disease
摘要
Abstract
Genome-wide association study(GWAS)data are used to explore the associations between blood metabolites and 5 re-spiratory diseases:asthma,tuberculosis(TB),chronic obstructive pulmonary disease(COPD),cor pulmonale,and bronchitis.The main method of analysis used is the inverse-variance weighted(IVW)approach,complemented by several sensitivity analyses,in-cluding MR-Egger regression,the weighted median,the weighted mode,Cochran's Q test,and the pleiotropy test.Additional direc-tional tests,Meta-analysis and metabolic pathway analyses are conducted for deeper insights.3 metabolites showing significant causal relationships are identified.Catechol glucuronide levels as a protective factor have a positive causal relationship with asthma;the creatine to carnitine ratio has a negative causal relationship with COPD as a risk factor;and the adenosine 5'-diphos-phate(ADP)to N-acetylglucosamine to N-acetylgalactosamine ratio as a protective factor has a positive causal relationship with bronchitis.Additionally,13 metabolites demonstrate strong causal relationships.Furthermore,we delineate 14 metabolic pathways related to the outcomes,including 6 associated with asthma,2 with TB,1 with COPD,4 with cor pulmonale,and 1 with bronchitis.A causal relationship between blood metabolites and 5 respiratory diseases has been established.The identified metabolites and pathways offer new insights into the underlying mechanisms of these diseases,necessitating further experimental validation.关键词
孟德尔随机化/全基因组关联研究/血液代谢物/呼吸系统疾病Key words
Mendelian randomization/genome-wide association study/blood metabolites/respiratory disease分类
生物科学引用本文复制引用
董逸然,李慧龙,闵一萍,李逸晗,王杰,赵建平..利用血液代谢物识别呼吸系统疾病的遗传因素[J].新疆大学学报（自然科学版中英文）,2026,43(2):196-207,12.基金项目
The National Natural Science Foundation of China-Regional Science Foundation Project"Research on construct-ing cell communication networks based on single-cell and spatial transcriptomics data"(62362062) （62362062）
The Multimodal Major Chronic Disease Prevention and Control Science and Engineering Key Laboratory Project of MIIT"Identification of novel drug targets for lung cancer via Mendelian randomization analysis based on blood proteomics"(MCD-2023-1-15). （MCD-2023-1-15）
