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单核苷酸多态性:对冠状动脉微血管功能障碍早期诊断及靶向干预的意义

Single nucleotide polymorphisms: Implications in the early diagnosis and targeted intervention of coronary microvascular dysfunction.

作者信息

Tian Dingyuan, Li Jie, Lai Xiaoyue, Yang Qingyuan, Zhang Zhihui, Deng Fang

机构信息

Department of Pathophysiology, College of High Altitude Military Medicine, Army Medical University, Chongqing 400038, China.

Department of Cardiovascular Medicine, Southwest Hospital, Army Medical University, Chongqing 400038, China.

出版信息

Genes Dis. 2024 Feb 28;12(2):101249. doi: 10.1016/j.gendis.2024.101249. eCollection 2025 Mar.

Abstract

Coronary microvascular dysfunction (CMD) is a clinical syndrome of myocardial ischemia caused by structural and/or functional abnormalities of pre-coronary arterioles and arterioles. While genetics and other factors play a role in CMD etiology, the key pathogenic mechanism remains unclear. Currently, the diagnostic procedure for CMD is still cumbersome, and there is a lack of effective targeted interventions. Single nucleotide polymorphisms (SNPs) offer promise in addressing these issues. SNPs, reflecting common genetic variations, have garnered extensive investigation across multiple diseases. Several SNPs associated with CMD have been discovered, and some have the potential to be therapeutic targets. Nevertheless, studies on CMD-related SNPs are relatively nascent and limited in number. In this review, we summarize the previously reported CMD-associated SNPs, delineate their pathophysiological mechanisms, and predict potentially important CMD sites by analyzing the SNPs linked to diseases sharing similar pathogenetic mechanisms and risk factors, such as coronary artery disease. We aim to explore reliable genetic markers implicated in CMD risk and prognosis, thereby providing a novel approach for early diagnosis and gene-targeted interventions of CMD in subsequent studies.

摘要

冠状动脉微血管功能障碍(CMD)是一种由冠状动脉前小动脉和小动脉的结构和/或功能异常引起的心肌缺血临床综合征。虽然遗传因素和其他因素在CMD病因中起作用,但其关键致病机制仍不清楚。目前,CMD的诊断程序仍然繁琐,并且缺乏有效的靶向干预措施。单核苷酸多态性(SNP)有望解决这些问题。SNP反映了常见的基因变异,已在多种疾病中得到广泛研究。已经发现了几个与CMD相关的SNP,其中一些有可能成为治疗靶点。然而,关于CMD相关SNP的研究相对较新且数量有限。在本综述中,我们总结了先前报道的与CMD相关的SNP,阐述了它们的病理生理机制,并通过分析与具有相似致病机制和危险因素的疾病(如冠状动脉疾病)相关的SNP来预测潜在的重要CMD位点。我们旨在探索与CMD风险和预后相关的可靠遗传标记,从而为后续研究中CMD的早期诊断和基因靶向干预提供一种新方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5a2/11696767/e25e0bcfa296/gr1.jpg

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