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被纳入考量的因素至关重要:代表性不足对表观遗传时钟在不同人群中的应用所产生的影响。

What's counted counts: the implications of underrepresentation for the application of epigenetic clocks in diverse populations.

作者信息

Gibbs Samuel F P, Pilbrow Anna P, Poppe Katrina K, Earle Nikki J, Jones Gregory T, Faatoese Allamanda F

机构信息

Christchurch Heart Institute, University of Otago Christchurch, 2 Riccarton Ave, Christchurch, 8022, New Zealand.

Heart Health Research Group, University of Auckland, 34 Princes Street, Auckland, 1010, New Zealand.

出版信息

Clin Epigenetics. 2025 Oct 3;17(1):161. doi: 10.1186/s13148-025-01954-5.

Abstract

DNA methylation (DNAm) has been touted as a potential unified marker of the contributions of both inherited and environmental factors on an individual's health. Changes in DNAm have been associated with several chronic diseases and mortality, and DNAm risk scores, or epigenetic clocks, have been proposed as metrics to quantify the process of 'biological ageing'. Unfortunately, research involving epigenetic clocks is not free from the issues faced in other fields of genomic research. Namely, individuals of European ancestry make up the vast majority of epigenetic study participants and it is unclear whether epigenetic clocks will provide equitable benefits when applied in diverse populations. Although some studies have reported variation in DNAm between populations, it can be difficult to identify the mechanisms underlying these differences. This has implications for clinical application of epigenetic clocks. In this review, we discuss epigenetic clocks, missing diversity in epigenetic research and the potential consequences of the latter on the equitable translation of epigenetic clocks to diverse populations.

摘要

DNA甲基化(DNAm)被吹捧为遗传和环境因素对个体健康影响的潜在统一标志物。DNAm的变化与多种慢性病和死亡率相关联,并且DNAm风险评分或表观遗传时钟已被提议作为量化“生物学衰老”过程的指标。不幸的是,涉及表观遗传时钟的研究也面临着基因组研究其他领域所面临的问题。具体而言,欧洲血统的个体占表观遗传学研究参与者的绝大多数,尚不清楚表观遗传时钟应用于不同人群时是否会带来公平的益处。尽管一些研究报告了不同人群之间DNAm的差异,但很难确定这些差异背后的机制。这对表观遗传时钟的临床应用具有影响。在本综述中,我们讨论了表观遗传时钟、表观遗传学研究中缺失的多样性以及后者对表观遗传时钟公平转化为不同人群应用的潜在后果。

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