冠心病的孟德尔随机化分析研究进展
Research Progress of Mendelian Randomized Analysis of Coronary Heart Disease
DOI: 10.12677/acm.2025.153597, PDF,    科研立项经费支持
作者: 郑雨萌, 窦津航：黑龙江中医药大学第一临床医学院，黑龙江 哈尔滨；邹国良*：黑龙江中医药大学附属第一医院心血管内科五科，黑龙江 哈尔滨
关键词: 冠状动脉粥样硬化性心脏病；孟德尔随机化；因果关系；危险因素；综述；Coronary Atherosclerotic Heart Disease； Mendelian Randomization； Causal Relationship； Risk Factors； Review
摘要: 冠状动脉粥样硬化性心脏病(CHD)是由于冠状动脉壁发生病理变化，形成粥样硬化斑块，从而导致冠状动脉狭窄或阻塞，引起心肌缺血和缺氧。近年来，孟德尔随机化(mendelian randomization, MR)在各种医学研究中获得越来越多的关注，MR主要以遗传变异作为工具变量来推导暴露与结局的因果关系，有效避免了观察性研究和随机对照试验中混杂因素和反向因果的影响。本综述总结了目前已发表的与CHD相关的MR研究，重点关注不同风险因素与CHD发病之间的因果关系。目前的研究结果支持CHD与人体测量参数、生活方式、炎症与免疫、精神心理、基因、血象、血压、肾功能不全、亚临床甲状腺功能减退症、银屑病的因果关系；但不支持CHD与阻塞性睡眠呼吸暂停、牛奶摄入量及rs4988235基因之间的因果关系。尽管有其局限性，但MR研究在提高我们对CHD病因学的理解和确定潜在的治疗干预方面仍具有重大意义。
Abstract: Coronary atherosclerotic heart disease (CHD) is caused by pathological changes in the coronary artery wall, forming atherosclerotic plaque, which leads to coronary artery stenosis or obstruction, causing myocardial ischemia and hypoxia. In recent years, mendelian randomization (MR) has gained more and more attention in various medical research. MR mainly uses genetic variation as an instrumental variable to deduce the causal relationship between exposure and outcome, effectively avoiding the influence of confounding factors and reverse causality in observational studies and randomized controlled trials. This review summarizes published MR studies related to CHD to date, focusing on the causal relationship between different risk factors and the onset of CHD. Current findings support a causal relationship between CHD and anthropometric parameters, lifestyle, inflammation and immunity, psychophysiology, genes, hematology, blood pressure, renal insufficiency, subclinical hypothyroidism, and psoriasis. However, a causal relationship between CHD and obstructive sleep apnea, milk intake, and rs4988235 gene was not supported. Despite its limitations, MR studies have significant implications in improving our understanding of the etiology of CHD and identifying potential therapeutic interventions.
文章引用：郑雨萌, 邹国良, 窦津航. 冠心病的孟德尔随机化分析研究进展[J]. 临床医学进展, 2025, 15(3): 138-146. https://doi.org/10.12677/acm.2025.153597

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