Environmental Factor Index (EFI): A Novel Approach to Measure the Strength of Environmental Influence on DNA Methylation in Identical Twins.

IF 2.5 Q3 GENETICS & HEREDITY Epigenomes Pub Date : 2024-11-21 DOI:10.3390/epigenomes8040044

Yoichi Takenaka, Osaka Twin Research Group, Mikio Watanabe

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Abstract

Background/objectives: The dynamic interaction between genomic DNA, epigenetic modifications, and phenotypic traits was examined in identical twins. Environmental perturbations can induce epigenetic changes in DNA methylation, influencing gene expression and phenotypes. Although DNA methylation mediates gene-environment correlations, the quantitative effects of external factors on DNA methylation remain underexplored. This study aimed to quantify these effects using a novel approach.

Methods: A cohort study was conducted on healthy monozygotic twins to evaluate the influence of environmental stimuli on DNA methylation. We developed the Environmental Factor Index (EFI) to identify methylation sites showing statistically significant changes in response to environmental stimuli. We analyzed the identified sites for associations with disorders, DNA methylation markers, and CpG islands.

Results: The EFI identified methylation sites that exhibited significant associations with genes linked to various disorders, particularly cancer. These sites were overrepresented on CpG islands compared to other genomic features, highlighting their regulatory importance.

Conclusions: The EFI is a valuable tool for understanding the molecular mechanisms underlying disease pathogenesis. It provides insights into the development of preventive and therapeutic strategies and offers a new perspective on the role of environmental factors in epigenetic regulation.

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环境因素指数（EFI）：测量环境对同卵双胞胎 DNA 甲基化影响强度的新方法。

背景/目的：在同卵双胞胎中研究了基因组 DNA、表观遗传修饰和表型特征之间的动态相互作用。环境干扰可诱导 DNA 甲基化的表观遗传变化，从而影响基因表达和表型。虽然DNA甲基化介导了基因与环境的相关性，但外部因素对DNA甲基化的定量影响仍未得到充分探索。本研究旨在采用一种新方法量化这些影响：方法：我们对健康的单卵双胞胎进行了一项队列研究，以评估环境刺激对 DNA 甲基化的影响。我们开发了环境因素指数（EFI），以确定对环境刺激有显著统计学变化的甲基化位点。我们分析了所确定的位点与疾病、DNA甲基化标记和CpG岛的关联：结果：EFI 发现的甲基化位点与各种疾病（尤其是癌症）相关基因有显著关联。与其他基因组特征相比，这些位点在 CpG 岛上的代表性更高，突出了其调控的重要性：EFI是了解疾病致病分子机制的重要工具。结论：EFI 是了解疾病发病的分子机制的重要工具，它为制定预防和治疗策略提供了见解，并为环境因素在表观遗传调控中的作用提供了新的视角。

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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