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Updated: May 7, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Single nucleotide polymorphisms: Implications in the early diagnosis and targeted intervention of coronary
Dingyuan Tian1,2, Jie Li2, Xiaoyue Lai3
1Department of Pathophysiology, College of High Altitude Military Medicine, Army Medical University, Chongqing 400038, China.
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.
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