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Review Article | Open Access

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

Dingyuan Tiana,b,1, Jie Lib,1, Xiaoyue Laic, Qingyuan Yangb, Zhihui Zhangb,d,e(), Fang Denga,f,g()
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
Department of Ultrasound, Xinqiao Hospital, Army Medical University, Chongqing 400037, China
Center for Circadian Metabolism and Cardiovascular Disease, Southwest Hospital, Army Medical University, Chongqing 400038, China
Key Laboratory of Geriatric Cardiovascular and Cerebrovascular Diseases, Ministry of Education, Chongqing 400038, China
Key Laboratory of Extreme Environmental Medicine, Ministry of Education of China, Chongqing 400038, China
Key Laboratory of High Altitude Medicine, PLA, Chongqing 400038, China

Peer review under responsibility of Chongqing Medical University.

1 These authors contributed equally to this work.

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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.

Keywords

Coronary artery diseaseCoronary microvascular dysfunctionMechanismPredictionSingle nucleotide polymorphism

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Genes & Diseases
Volume 12 Issue 2,
March 2025
Article number: 101249
DOI: 10.1016/j.gendis.2024.101249
Cite this article:
Tian D, Li J, Lai X, et al. Single nucleotide polymorphisms: Implications in the early diagnosis and targeted intervention of coronary microvascular dysfunction. Genes & Diseases, 2025, 12(2): 101249. https://doi.org/10.1016/j.gendis.2024.101249
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