DNA甲基化与人类心血管疾病:已知CpG甲基化位点的系统回顾和数据库。

IF 5.7 2区 医学 Q1 Medicine
Mykhailo Krolevets, Vincent Ten Cate, Jürgen H Prochaska, Andreas Schulz, Steffen Rapp, Stefan Tenzer, Miguel A Andrade-Navarro, Steve Horvath, Christof Niehrs, Philipp S Wild
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引用次数: 2

摘要

背景:心血管疾病(CVD)是世界范围内死亡的主要原因,被认为是最受环境驱动的疾病之一。DNA甲基化在个体暴露对CVD发生和进展的反应中的作用仍然知之甚少,缺乏综合证据。结果:根据PRISMA(系统评价和荟萃分析的首选报告项目)指南,对检查CVD中DNA胞嘧啶甲基化测量的文章进行了系统评价。该搜索从PubMed和CENTRAL数据库中获得了5563篇文章。从99项研究中,总共有87,827个符合分析条件的个体,建立了一个数据库,结合了所有CpG,基因和研究相关的信息。共包含74580个独特的CpG位点,其中1452个CpG位点被≥2篇文献提及,441个CpG位点被≥3篇文献提及。两个位点在≥6篇出版物中被引用:cg01656216(接近ZNF438)与血管疾病和表观遗传年龄相关,cg03636183(接近F2RL3)与冠心病、心肌梗死、吸烟和空气污染相关。在19127个定位基因中,有5807个在≥2项研究中被报道。最常见的报道是TEAD1 (TEA结构域转录因子1)和PTPRN2(蛋白酪氨酸磷酸酶受体型N2)与从血管到心脏疾病的预后相关。对4532个重叠基因进行基因集富集分析,发现基因本体分子功能“dna结合转录激活子活性”(q = 1.65 × 10-11)和生物过程“骨骼系统发育”(q = 1.89 × 10-23)富集。基因富集表明,一般cvd相关术语是共享的,而“心脏”和“脉管系统”特异性基因具有更多的疾病特异性术语,如“心脏”的PR间隔或“脉管系统”的血小板分布宽度。STRING分析显示,差异甲基化基因的产物之间存在显著的蛋白-蛋白相互作用(p = 0.003),这表明蛋白质相互作用网络的失调可能导致CVD。与分子特征数据库中筛选的基因集重叠显示止血(p = 2.9 × 10-6)和动脉粥样硬化(p = 4.9 × 10-4)中基因的富集。结论:本文综述了DNA甲基化与人类心血管疾病之间的重要关系。一个开放获取的数据库已经汇编了报道的CpG甲基化位点、基因和途径,这些位点、基因和途径可能在这种关系中起重要作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

DNA methylation and cardiovascular disease in humans: a systematic review and database of known CpG methylation sites.

DNA methylation and cardiovascular disease in humans: a systematic review and database of known CpG methylation sites.

DNA methylation and cardiovascular disease in humans: a systematic review and database of known CpG methylation sites.

DNA methylation and cardiovascular disease in humans: a systematic review and database of known CpG methylation sites.

Background: Cardiovascular disease (CVD) is the leading cause of death worldwide and considered one of the most environmentally driven diseases. The role of DNA methylation in response to the individual exposure for the development and progression of CVD is still poorly understood and a synthesis of the evidence is lacking.

Results: A systematic review of articles examining measurements of DNA cytosine methylation in CVD was conducted in accordance with PRISMA (preferred reporting items for systematic reviews and meta-analyses) guidelines. The search yielded 5,563 articles from PubMed and CENTRAL databases. From 99 studies with a total of 87,827 individuals eligible for analysis, a database was created combining all CpG-, gene- and study-related information. It contains 74,580 unique CpG sites, of which 1452 CpG sites were mentioned in ≥ 2, and 441 CpG sites in ≥ 3 publications. Two sites were referenced in ≥ 6 publications: cg01656216 (near ZNF438) related to vascular disease and epigenetic age, and cg03636183 (near F2RL3) related to coronary heart disease, myocardial infarction, smoking and air pollution. Of 19,127 mapped genes, 5,807 were reported in ≥ 2 studies. Most frequently reported were TEAD1 (TEA Domain Transcription Factor 1) and PTPRN2 (Protein Tyrosine Phosphatase Receptor Type N2) in association with outcomes ranging from vascular to cardiac disease. Gene set enrichment analysis of 4,532 overlapping genes revealed enrichment for Gene Ontology molecular function "DNA-binding transcription activator activity" (q = 1.65 × 10-11) and biological processes "skeletal system development" (q = 1.89 × 10-23). Gene enrichment demonstrated that general CVD-related terms are shared, while "heart" and "vasculature" specific genes have more disease-specific terms as PR interval for "heart" or platelet distribution width for "vasculature." STRING analysis revealed significant protein-protein interactions between the products of the differentially methylated genes (p = 0.003) suggesting that dysregulation of the protein interaction network could contribute to CVD. Overlaps with curated gene sets from the Molecular Signatures Database showed enrichment of genes in hemostasis (p = 2.9 × 10-6) and atherosclerosis (p = 4.9 × 10-4).

Conclusion: This review highlights the current state of knowledge on significant relationship between DNA methylation and CVD in humans. An open-access database has been compiled of reported CpG methylation sites, genes and pathways that may play an important role in this relationship.

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来源期刊
Clinical Epigenetics
Clinical Epigenetics Biochemistry, Genetics and Molecular Biology-Developmental Biology
CiteScore
8.90
自引率
5.30%
发文量
150
审稿时长
12 weeks
期刊介绍: Clinical Epigenetics, the official journal of the Clinical Epigenetics Society, is an open access, peer-reviewed journal that encompasses all aspects of epigenetic principles and mechanisms in relation to human disease, diagnosis and therapy. Clinical trials and research in disease model organisms are particularly welcome.
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