DNA methylation biomarkers and myopia: a multi-omics study integrating GWAS, mQTL and eQTL data.

IF 4.8 2区医学 Q1 GENETICS & HEREDITY

Clinical Epigenetics Pub Date : 2024-11-13 DOI:10.1186/s13148-024-01772-1

Xing-Xuan Dong, Dong-Ling Chen, Hui-Min Chen, Dan-Lin Li, Dan-Ning Hu, Carla Lanca, Andrzej Grzybowski, Chen-Wei Pan

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引用次数: 0

Abstract

Background: This study aimed to identify DNA methylation biomarkers associated with myopia using summary-data-based Mendelian randomization (SMR).

Methods: A systematic search of the PubMed, Web of Science, Cochrane Library, and Embase databases was conducted up to March 27, 2024. SMR analyses were performed to integrate genome-wide association study (GWAS) with methylation quantitative trait loci (mQTL) and expression quantitative trait loci (eQTL) studies. The heterogeneity in the dependent instrument (HEIDI) test was utilized to distinguish pleiotropic associations from linkage disequilibrium.

Results: The systematic review identified 26 DNA methylation biomarkers in five studies, with no overlap observed among those identified by different studies. After integrating GWAS with multi-omics data of mQTL and eQTL, six genes were significantly associated with myopia: PRMT6 (cg00944433 and cg15468180), SH3YL1 (cg03299269, cg11361895, and cg13354988), ZKSCAN4 (cg01192291), GATS (cg17830204), NPAT (cg04826772), and UBE2I (cg03545757 and cg08025960).

Conclusions: We identified six methylation biomarkers associated with the risk of myopia that may be helpful to elucidate the etiology mechanisms of myopia. Further experimental validation studies are required to corroborate these findings.

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DNA 甲基化生物标志物与近视：一项整合了 GWAS、mQTL 和 eQTL 数据的多组学研究。

背景：本研究旨在利用基于汇总数据的孟德尔随机化（SMR）方法，确定与近视相关的DNA甲基化生物标志物：本研究旨在利用基于汇总数据的孟德尔随机化（SMR）方法确定与近视相关的DNA甲基化生物标志物：方法：对截至 2024 年 3 月 27 日的 PubMed、Web of Science、Cochrane Library 和 Embase 数据库进行了系统检索。进行了 SMR 分析，以整合全基因组关联研究（GWAS）、甲基化定量性状位点（mQTL）和表达定量性状位点（eQTL）研究。利用依赖性工具中的异质性（HEIDI）检验来区分多效应关联和连锁不平衡：系统综述在五项研究中发现了 26 个 DNA 甲基化生物标志物，不同研究发现的生物标志物之间没有重叠。将基因组学分析与 mQTL 和 eQTL 的多组学数据整合后，发现有 6 个基因与近视显著相关：PRMT6（cg00944433和cg15468180）、SH3YL1（cg03299269、cg11361895和cg13354988）、ZKSCAN4（cg01192291）、GATS（cg17830204）、NPAT（cg04826772）和UBE2I（cg03545757和cg08025960）：我们发现了六个与近视风险相关的甲基化生物标志物，它们可能有助于阐明近视的病因机制。要证实这些发现，还需要进一步的实验验证研究。

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

Clinical Epigenetics ONCOLOGY-

自引率

5.30%

发文量

150

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.