Differential methylation in blood pressure control genes is associated to essential hypertension in African Brazilian populations.

IF 2.9 3区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Epigenetics Pub Date : 2025-12-01 Epub Date: 2025-03-27 DOI:10.1080/15592294.2025.2477850
Camila Cristina Avila Martins, Mariana Maschietto, Lilian Kimura, Lucas Alvizi, Kelly Nunes, Vinícius Magalhães Borges, Ana Cristina Victorino Krepischi, Regina Célia Mingroni-Netto
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引用次数: 0

Abstract

While genetic studies have provided insights into essential hypertension (EH, defined by high blood pressure ≥140/90 mmHg), investigation through epigenetics may address gaps in understanding its heritability. This study focused on African Brazilian populations in Vale do Ribeira River region, due to their high hypertension prevalence. We aimed to determine if DNA methylation is linked to hypertension susceptibility, through a genome-wide evaluation of 80 peripheral blood samples from normotensive (39) and hypertensive (41) individuals, with Infinium Methylation EPIC BeadChip platform. Data were analyzed using ChAMP package and cross-referenced with information from databases such as EWAS Atlas, GWAS catalog, GeneCards, literature, and tools such as VarElect and EWAS Toolkit. The comparison between hypertensive and normotensive revealed 190 differentially methylated CpG positions (DMPs) and 46 differentially methylated regions (DMRs), both with p-value ≤0.05. Among the DMPs, 27 were found to have a plausible role in blood pressure. Among the DMRs, those mapped to ABAT, BLCAP, CERS3, EIF4E, FMN1, GABBR1, HLA-DQB2, HOXA5, IL5RA, KCNH2, MIR487B, MIR539, MIR886, MKRN3, NUDT12, PON3, RNF39, RWDD3, and TSHBS1 were highlighted because of their lowest p-values, current literature, and/or VarElect prioritization. Our findings suggest that differences in methylation contribute to the high susceptibility to essential hypertension in these populations.

在非裔巴西人群中,血压控制基因的差异甲基化与原发性高血压有关。
虽然遗传学研究已经提供了对原发性高血压(EH,定义为高血压≥140/90 mmHg)的见解,但通过表观遗传学的研究可能会弥补对其遗传性理解的空白。这项研究的重点是里贝拉河谷地区的非洲裔巴西人,因为他们的高血压患病率很高。我们的目的是确定DNA甲基化是否与高血压易感性相关,通过使用Infinium methylation EPIC BeadChip平台对来自正常(39)和高血压(41)个体的80个外周血样本进行全基因组评估。使用ChAMP软件包对数据进行分析,并与数据库(如EWAS Atlas、GWAS catalog、GeneCards、文献)和工具(如VarElect和EWAS Toolkit)中的信息进行交叉引用。高血压组与正常组比较发现差异甲基化CpG位点(dmp) 190个,差异甲基化区(DMRs) 46个,p值均≤0.05。在这些dmp中,有27种被发现对血压有合理的作用。在DMRs中,那些映射到ABAT、BLCAP、CERS3、EIF4E、FMN1、GABBR1、HLA-DQB2、HOXA5、IL5RA、KCNH2、MIR487B、MIR539、MIR886、MKRN3、NUDT12、PON3、RNF39、RWDD3和TSHBS1的DMRs因其最低的p值、当前文献和/或VarElect优先级而被突出显示。我们的研究结果表明,甲基化的差异导致了这些人群对原发性高血压的高易感性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Epigenetics
Epigenetics 生物-生化与分子生物学
CiteScore
6.80
自引率
2.70%
发文量
82
审稿时长
3-8 weeks
期刊介绍: Epigenetics publishes peer-reviewed original research and review articles that provide an unprecedented forum where epigenetic mechanisms and their role in diverse biological processes can be revealed, shared, and discussed. Epigenetics research studies heritable changes in gene expression caused by mechanisms others than the modification of the DNA sequence. Epigenetics therefore plays critical roles in a variety of biological systems, diseases, and disciplines. Topics of interest include (but are not limited to): DNA methylation Nucleosome positioning and modification Gene silencing Imprinting Nuclear reprogramming Chromatin remodeling Non-coding RNA Non-histone chromosomal elements Dosage compensation Nuclear organization Epigenetic therapy and diagnostics Nutrition and environmental epigenetics Cancer epigenetics Neuroepigenetics
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