Two Clinically Implementable Digital PCR Assessments of DNA Methylation for Diagnosing Heavy Alcohol Consumption.

IF 2.5 Q3 GENETICS & HEREDITY

Epigenomes Pub Date : 2024-12-24 DOI:10.3390/epigenomes9010001

Robert Philibert, Steven R H Beach, Allan M Andersen

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Abstract

Background: Heavy alcohol consumption (HAC) has a profound adverse effect on human health. Unfortunately, there is a relative lack of tools that are easily implementable in clinical settings and that can be used to supplement self-reporting in the diagnosis and management of HAC. In part, this paucity is due to limitations of currently available biological measures and a mismatch between available biological measures and the needs of clinicians managing HAC.

Objectives: We first review the pros and cons of existing biological measures. Next, we review the underlying theory and the performance characteristics of two recently developed methylation-sensitive digital PCR (MSdPCR) assays, referred to as the Alcohol T Score (ATS) and ZSCAN25, for the assessment of chronic and recent HAC, respectively. Finally, we outline a paradigm for improving the clinical diagnosis and management of alcohol use disorders by utilizing these new markers of alcohol consumption.

Conclusions: We conclude that further studies to understand the test performance characteristics of each of these epigenetic tools in larger, diverse populations are in order.

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两种临床可实现的DNA甲基化数字PCR评估用于诊断重度饮酒。

背景：大量饮酒（HAC）对人体健康有严重的不良影响。不幸的是，相对缺乏在临床环境中易于实施的工具，并且可以用来补充HAC诊断和管理中的自我报告。在某种程度上，这种缺乏是由于目前可用的生物措施的局限性以及可用的生物措施与临床医生管理HAC的需求之间的不匹配。目的：我们首先回顾了现有生物措施的优缺点。接下来，我们回顾了最近开发的两种甲基化敏感数字PCR （MSdPCR）检测方法的基本理论和性能特征，即酒精T评分（ATS）和ZSCAN25，分别用于评估慢性和近期HAC。最后，我们概述了一个范例，以改善临床诊断和管理的酒精使用障碍，利用这些新的酒精消费标志物。结论：我们的结论是，进一步的研究，以了解每个这些表观遗传工具的测试性能特征，在更大的，不同的人群是有序的。

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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