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在心房动病原发生过程中检测m6A相关SNP的全基因组检测

Yan Huang^1,2,3, Yuqian Tan⁴, Yuan Yao^1,2,3

¹Department of Cardiology, Renmin Hospital of Wuhan University, Wuhan, China.

Frontiers in cardiovascular medicine

|June 12, 2023

概括

N6-甲基氨酸单核酸多态 (m6A-SNPs) 与心房 (AF) 有关. 这项研究确定了与AF相关的特定m6A-SNP,为该病症提供了潜在的治疗点.

科学领域:

遗传学遗传学是一个
心血管疾病心血管疾病
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.

背景情况:

在生理和病理过程中,N6-Methyladenosine (m6A) 修饰起着至关重要的作用.
m6A单核酸多态 (m6A-SNP) 与冠状动脉疾病和心力衰竭等心血管疾病有关.
在心房动 (AF) 中m6A-SNP的参与仍然在很大程度上未被探索.

研究的目的:

调查m6A-SNP与心房动 (AF) 之间的关联.
确定可能有助于AF发展的特定m6A-SNP.
探索已识别的m6A-SNP在AF发病过程中的功能影响.

主要方法:

对AF的全基因组关联研究 (GWAS) 数据与来自m6AVar数据库的m6A-SNP一起分析.
进行表达定量特征位置 (eQTL) 和差异基因表达分析以验证关联.
用基因本体学 (GO) 丰富分析来确定受影响基因的潜在功能.

主要成果:

发现105个m6A-SNP与AF显著相关 (FDR<0.05).
七个m6A-SNP在心房附属部分表现出显著的eQTL信号.
含有特定SNP的SYNE2,USP36和THAP9基因 (rs35648226,rs900349,rs1047564) 在AF患者中表达不同.

结论:

这项研究成功地确定了与心房动相关的m6A-SNP.
这些发现为AF发展的遗传基础提供了新的见解.
已识别的m6A-SNP代表了未来AF治疗策略的潜在目标.

关键词:

通过N6-甲基氨酸甲基化.心房动是心房动的一种.全基因组关联研究 (GWAS)m6A 修改的修改单个核酸的多态性.

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