DNA Methylation and Type 2 Diabetes: the Use of Mendelian Randomization to Assess Causality.

IF 1.3 Q4 GENETICS & HEREDITY Current genetic medicine reports Pub Date : 2019-12-01 Epub Date: 2019-11-15 DOI:10.1007/s40142-019-00176-5
Diana L Juvinao-Quintero, Marie-France Hivert, Gemma C Sharp, Caroline L Relton, Hannah R Elliott
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Abstract

Purpose of review: This review summarises recent advances in the field of epigenetics in order to understand the aetiology of type 2 diabetes (T2D).

Recent findings: DNA methylation at a number of loci has been shown to be robustly associated with T2D, including TXNIP, ABCG1, CPT1A, and SREBF1. However, due to the cross-sectional nature of many epidemiological studies and predominant analysis in samples derived from blood rather than disease relevant tissues, inferring causality is difficult. We therefore outline the use of Mendelian randomisation (MR) as one method able to assess causality in epigenetic studies of T2D.

Summary: Epidemiological studies have been fruitful in identifying epigenetic markers of T2D. Triangulation of evidence including utilisation of MR is essential to delineate causal from non-causal biomarkers of disease. Understanding the causality of epigenetic markers in T2D more fully will aid prioritisation of CpG sites as early biomarkers to detect disease or in drug development to target epigenetic mechanisms in order to treat patients.

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DNA甲基化与2型糖尿病:使用孟德尔随机化来评估因果关系。
综述目的:本文综述了近年来表观遗传学领域的研究进展,以了解2型糖尿病(T2D)的病因。最近的研究发现:DNA甲基化在许多位点被证明与T2D密切相关,包括TXNIP、ABCG1、CPT1A和SREBF1。然而,由于许多流行病学研究的横断面性质和主要分析来自血液而不是疾病相关组织的样本,推断因果关系是困难的。因此,我们概述了孟德尔随机化(MR)作为一种能够评估T2D表观遗传学研究因果关系的方法。流行病学研究在识别T2D的表观遗传标记方面取得了丰硕成果。包括磁共振成像在内的证据三角测量对于区分疾病的因果性和非因果性生物标志物至关重要。更全面地了解T2D中表观遗传标记的因果关系将有助于优先选择CpG位点作为早期生物标记物来检测疾病或在药物开发中针对表观遗传机制来治疗患者。
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