遗传学、转录组学、元基因组学和代谢组学在心房颤动发病机制和预测中的应用。

IF 1.7 4区 医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
European Heart Journal Supplements Pub Date : 2024-07-31 eCollection Date: 2024-07-01 DOI:10.1093/eurheartjsupp/suae072
Suvi Linna-Kuosmanen, Matti Vuori, Tuomas Kiviniemi, Joonatan Palmu, Teemu Niiranen
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引用次数: 0

摘要

心房颤动(AF)的主要细胞基质和心房颤动的发病机制仍然特征不清,因此其风险评估缺乏精确性。虽然利用全息技术可以发现新的心房颤动风险因素并缩小心房颤动发病机制的细胞通路,但这项工作远未完成。大规模的全基因组关联研究和转录组分析可以无偏见地、非候选基因地描述与人类心房颤动相关的分子变化,目前已发现至少 150 个与心房颤动相关的基因位点。然而,这些基因位点中只有少数几个得到了彻底的机理剖析,这表明在靶向诊断和治疗方面仍有许多问题有待发现。另一方面,代谢组学和元基因组学分别增加了对主要底物下游的房颤的了解,并整合了环境和宿主因素的信号。这两个快速发展的领域已经提供了流行性和偶发性房颤的若干相关因素,但还需要在外部队列和实验研究中进一步验证。在这篇综述中,我们将介绍遗传学、转录组学、元基因组学和代谢组学的最新进展,以及它们如何帮助更好地发现心房颤动的风险因素并揭示导致心房颤动发病的分子机制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetics, transcriptomics, metagenomics, and metabolomics in the pathogenesis and prediction of atrial fibrillation.

The primary cellular substrates of atrial fibrillation (AF) and the mechanisms underlying AF onset remain poorly characterized and therefore, its risk assessment lacks precision. While the use of omics may enable discovery of novel AF risk factors and narrow down the cellular pathways involved in AF pathogenesis, the work is far from complete. Large-scale genome-wide association studies and transcriptomic analyses that allow an unbiased, non-candidate-gene-based delineation of molecular changes associated with AF in humans have identified at least 150 genetic loci associated with AF. However, only few of these loci have been thoroughly mechanistically dissected, indicating that much remains to be discovered for targeted diagnostics and therapeutics. Metabolomics and metagenomics, on the other hand, add to the understanding of AF downstream of the primary substrate and integrate the signalling of environmental and host factors, respectively. These two rapidly developing fields have already provided several correlates of prevalent and incident AF that require additional validation in external cohorts and experimental studies. In this review, we take a look at the recent developments in genetics, transcriptomics, metagenomics, and metabolomics and how they may aid in improving the discovery of AF risk factors and shed light into the molecular mechanisms leading to AF onset.

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来源期刊
European Heart Journal Supplements
European Heart Journal Supplements 医学-心血管系统
CiteScore
3.00
自引率
0.00%
发文量
575
审稿时长
12 months
期刊介绍: The European Heart Journal Supplements (EHJs) is a long standing member of the ESC Journal Family that serves as a publication medium for supplemental issues of the flagship European Heart Journal. Traditionally EHJs published a broad range of articles from symposia to special issues on specific topics of interest. The Editor-in-Chief, Professor Roberto Ferrari, together with his team of eminent Associate Editors: Professor Francisco Fernández-Avilés, Professors Jeroen Bax, Michael Böhm, Frank Ruschitzka, and Thomas Lüscher from the European Heart Journal, has implemented a change of focus for the journal. This entirely refreshed version of the European Heart Journal Supplements now bears the subtitle the Heart of the Matter to give recognition to the focus the journal now has. The EHJs – the Heart of the Matter intends to offer a dedicated, scientific space for the ESC, Institutions, National and Affiliate Societies, Associations, Working Groups and Councils to disseminate their important successes globally.
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