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对标签单核苷酸多态性(tagging SNPs)调控潜力的生物信息学分析提供了证据,表明编码耐热性未知(Hero)蛋白的基因参与了心血管疾病的发病机制。

Bioinformatic analysis of the regulatory potential of tagging SNPs provides evidence of the involvement of genes encoding the heat-resistant obscure (Hero) proteins in the pathogenesis of cardiovascular diseases.

作者信息

Shilenok Vladislav V, Shilenok Irina V, Soldatov Vladislav O, Orlov Yuriy L, Kobzeva Ksenia A, Deykin Alexey V, Bushueva Olga Yu

机构信息

Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, Kursk 305041, Russia.

Cardiology Department with Intensive Care Unit, Kursk Emergency Hospital, 305035 Kursk, Russia.

出版信息

J Integr Bioinform. 2025 Jun 3;22(1). doi: 10.1515/jib-2024-0043. eCollection 2025 Mar 1.


DOI:10.1515/jib-2024-0043
PMID:40459864
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12327200/
Abstract

Although multiple aspects of molecular pathology underlying cardiovascular diseases (CVDs) have been revealed, the complete picture has yet to be elucidated. In this respect, annotation of the novel links between genes and atherosclerosis is of great importance for cardiovascular medicine. Aligning with our previous research, we aimed to analyze the cardiovascular predisposition contribution of the genes encoding Hero-proteins, polypeptides with chaperone activity. Following bioinformatic sources were utilized to annotate data regarding the cardiovascular contribution of Hero-proteins and their genes: SNPinfo Web Server, The Cardiovascular Disease Knowledge Portal, GTEx Portal, HaploReg, rSNPBase, RegulomeDB, atSNP, Gene Ontology, QTLbase, and the Blood eQTL browser. Almost all analyzed genes were characterized by a very high regulatory potential of tag SNPs (except ). Multiple substantial impacts of the analyzed SNPs on histone modifications, eQTL effects on CVD-related genes, and binding to transcription factors involved in biological processes pathogenetically significant for CVDs have been discovered. Here we provide evidence of the involvement of genes , , , , and in CVDs and their risk factors (high blood pressure, dyslipidemia, obesity, arrhythmias, etc.), thus revealing Hero-proteins as putative actors in the pathobiology of the heart and vessels.

摘要

尽管心血管疾病(CVDs)潜在的分子病理学多个方面已被揭示,但全貌仍有待阐明。在这方面,注释基因与动脉粥样硬化之间的新联系对心血管医学至关重要。与我们之前的研究一致,我们旨在分析编码具有伴侣活性的多肽Hero蛋白的基因对心血管易感性的贡献。利用以下生物信息学资源注释有关Hero蛋白及其基因对心血管贡献的数据:SNPinfo网络服务器、心血管疾病知识门户、GTEx门户、HaploReg、rSNPBase、RegulomeDB、atSNP、基因本体论、QTLbase和血液eQTL浏览器。几乎所有分析的基因都具有标签单核苷酸多态性(SNP)的非常高的调控潜力(除外)。已发现分析的SNP对组蛋白修饰有多种实质性影响、对CVD相关基因的eQTL效应以及与对CVD发病机制具有重要意义的生物学过程中涉及的转录因子的结合。在此,我们提供了基因、、、和参与CVD及其危险因素(高血压、血脂异常、肥胖、心律失常等)的证据,从而揭示Hero蛋白是心脏和血管病理生物学中的假定参与者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5656/12327200/836589e6247c/j_jib-2024-0043_fig_003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5656/12327200/bc4a7dbec4e1/j_jib-2024-0043_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5656/12327200/3d533eaa3e12/j_jib-2024-0043_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5656/12327200/836589e6247c/j_jib-2024-0043_fig_003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5656/12327200/bc4a7dbec4e1/j_jib-2024-0043_fig_001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5656/12327200/3d533eaa3e12/j_jib-2024-0043_fig_002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5656/12327200/836589e6247c/j_jib-2024-0043_fig_003.jpg

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本文引用的文献

[1]
Obesity and Environmental Risk Factors Significantly Modify the Association between Ischemic Stroke and the Hero Chaperone .

Life (Basel). 2024-9-12

[2]
Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing.

J Surg Res. 2024-4

[3]
Ranking age-specific modifiable risk factors for cardiovascular disease and mortality: evidence from a population-based longitudinal study.

EClinicalMedicine. 2023-9-27

[4]
Closest horizons of Hsp70 engagement to manage neurodegeneration.

Front Mol Neurosci. 2023-9-19

[5]
Association between Gene Variants and Ischemic Stroke: A Pilot Study Providing Additional Evidence for the Role of Heat Shock Proteins in Disease Pathogenesis.

Genes (Basel). 2023-5-27

[6]
RNAseq profiling of blood from patients with coronary artery disease: Signature of a T cell imbalance.

J Mol Cell Cardiol Plus. 2023-6

[7]
Polymorphism of , the gene encoding a heat-resistant obscure (Hero) protein with chaperone activity, is a novel link in ischemic stroke.

IBRO Neurosci Rep. 2023-5-10

[8]
SERPINE1 mRNA Binding Protein 1 Is Associated with Ischemic Stroke Risk: A Comprehensive Molecular-Genetic and Bioinformatics Analysis of SNPs.

Int J Mol Sci. 2023-5-13

[9]
Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing.

Pharmgenomics Pers Med. 2023-4-27

[10]
Highly Charged Proteins and Their Repulsive Interactions Antagonize Biomolecular Condensation.

JACS Au. 2023-2-24

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