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基于血液的全表观基因组关联研究和酒精消费的预测

Elena Bernabeu¹, Aleksandra D Chybowska¹, Jacob K Kresovich²

¹Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Clinical epigenetics

|January 25, 2025

概括

DNA甲基化 (DNAm) 提供了酒精消费的客观测量,优于自我报告. 这种表观遗传分数 (EpiScore) 与大脑健康指标相关,与传统的自我报告酒精摄入量不同.

科学领域:

表观遗传学和分子流行病学
公共卫生和疾病预防疾病预防

背景情况:

饮酒是许多疾病的重要危险因素.
自我报告的酒精摄入量倾向于回忆偏差和测量错误.
DNA甲基化 (DNAm) 是一种潜在的酒精消费的客观生物标志物.

研究的目的:

使用DNAm.m.探索酒精消费的表观遗传结构.
为了开发和验证一个基于血液的表观遗传分数 (EpiScore) 酒精消费.
调查EpiScore与大脑成像指标的关联.

主要方法:

开发了一个EpiScore使用弹性网处罚回归在DNAm数据从苏格兰一代研究.
在16,717个人中训练了EpiScore,并在四个外部队伍中对超过10,000个人进行了验证.
进行了全表观基因组关联研究 (EWAS),以确定与饮酒相关的新型CpG位点.

主要成果:

该EpiScore实现了适度的相关性 (0.410.53) 与跨队列的自我报告的酒精消费.
在LBC1936队列中,较高的EpiScore水平与较差的全球脑成像指标显著相关.
在同一个队列中,自我报告的酒精消费与大脑成像指标没有显著的关联.
通过EWAS确定了两种与酒精消费相关的新型CpG位点.

结论:

DNA甲基化为评估酒精消费模式提供了一个客观的方法.
开发的EpiScore显示了特征酒精摄入量及其与大脑健康相关性的潜力.
表观遗传生物标志物比自我报告更有利于理解酒精对健康的影响.

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