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.

中文翻译：

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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和靶向干预的意义

冠状微血管功能障碍（CMD）是冠状动脉前小动脉和小动脉结构和/或功能异常引起的心肌缺血的临床综合征。虽然遗传和其他因素在 CMD 病因学中发挥作用，但关键的致病机制仍不清楚。目前，CMD的诊断程序仍然繁琐，缺乏有效的针对性干预措施。单核苷酸多态性 (SNP) 有望解决这些问题。SNP 反映了常见的遗传变异，已在多种疾病中得到广泛研究。已经发现了一些与 CMD 相关的 SNP，其中一些有可能成为治疗靶点。然而，对 CMD 相关 SNP 的研究相对较新且数量有限。在这篇综述中，我们总结了之前报道的与 CMD 相关的 SNP，描述了它们的病理生理机制，并通过分析与具有相似发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。我们的目标是探索与 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新方法。