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表观遗传学研究中的双胞胎方法学。

Twin methodology in epigenetic studies.

作者信息

Tan Qihua, Christiansen Lene, von Bornemann Hjelmborg Jacob, Christensen Kaare

机构信息

Epidemiology, Biostatistics and Bio-demography, Institute of Public Health, University of Southern Denmark, DK-5000, Odense C, Denmark Human Genetics, Institute of Clinical Research, University of Southern Denmark, DK-5000, Odense C, Denmark

Epidemiology, Biostatistics and Bio-demography, Institute of Public Health, University of Southern Denmark, DK-5000, Odense C, Denmark Human Genetics, Institute of Clinical Research, University of Southern Denmark, DK-5000, Odense C, Denmark.

出版信息

J Exp Biol. 2015 Jan 1;218(Pt 1):134-9. doi: 10.1242/jeb.107151.

Abstract

Since the final decades of the last century, twin studies have made a remarkable contribution to the genetics of human complex traits and diseases. With the recent rapid development in modern biotechnology of high-throughput genetic and genomic analyses, twin modelling is expanding from analysis of diseases to molecular phenotypes in functional genomics especially in epigenetics, a thriving field of research that concerns the environmental regulation of gene expression through DNA methylation, histone modification, microRNA and long non-coding RNA expression, etc. The application of the twin method to molecular phenotypes offers new opportunities to study the genetic (nature) and environmental (nurture) contributions to epigenetic regulation of gene activity during developmental, ageing and disease processes. Besides the classical twin model, the case co-twin design using identical twins discordant for a trait or disease is becoming a popular and powerful design for epigenome-wide association study in linking environmental exposure to differential epigenetic regulation and to disease status while controlling for individual genetic make-up. It can be expected that novel uses of twin methods in epigenetic studies are going to help with efficiently unravelling the genetic and environmental basis of epigenomics in human complex diseases.

摘要

自上世纪最后几十年以来,双胞胎研究对人类复杂性状和疾病的遗传学做出了卓越贡献。随着现代生物技术在高通量遗传和基因组分析方面的迅速发展,双胞胎建模正从疾病分析扩展到功能基因组学中的分子表型研究,尤其是在表观遗传学领域,这是一个蓬勃发展的研究领域,涉及通过DNA甲基化、组蛋白修饰、微小RNA和长链非编码RNA表达等对基因表达进行环境调控。将双胞胎方法应用于分子表型为研究发育、衰老和疾病过程中基因活性表观遗传调控的遗传(先天)和环境(后天)贡献提供了新机会。除了经典的双胞胎模型外,针对性状或疾病不一致的同卵双胞胎采用的病例共双胞胎设计,正成为全表观基因组关联研究中一种流行且强大的设计,用于在控制个体遗传组成的同时,将环境暴露与差异表观遗传调控及疾病状态联系起来。可以预期,双胞胎方法在表观遗传学研究中的新应用将有助于有效揭示人类复杂疾病表观基因组学的遗传和环境基础。

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