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The Utility of Twins for Epigenetic Analysis

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Epigenetic Epidemiology

Abstract

Twin studies have played an important role in our understanding of individual variation for over a century. The strength of these lies in the capacity to almost perfectly control for inter-individual genetic variation through the study of monozygotic (MZ) twin pairs. Despite their genetic identity, MZ twins usually show phenotypic variability, often solely ascribed to non-shared environmental exposures. Given that epigenetic mechanisms are widely believed to be the mediators of the influence of environmental factors on the underlying genome, it is not surprising that study of twins in epigenetic research is an important approach to help unravel the complexities associated with gene: environment interactions in human development and disease. In addition, the strategic use of twins in epigenetic studies has revealed the importance of genetic factors and both in utero and postnatal environments to the establishment and maintenance of the human epigenome. However, a note of caution is warranted given emerging evidence for epigenetic variation as an inherent feature of MZ twinning and the potential for MZ twins to show genetic variability. Irrespective of this, twin studies are beginning to reveal evidence linking epigenetic disruption to disease-associated risk in humans.

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Abbreviations

2D:

Two dimensional

3′UTR:

Non-protein coding 3′ untranslated region of RNA transcript

5MeC:

5-methylcytosine

AIMS:

Amplification of inter-methylated sites

ANOVA:

Analysis of variance

CBMC:

Cord blood mononuclear cells

CGI:

CpG island region (enriched for CpG dinucleotides)

COMT:

Catechol-O-methyltransferase

DC:

Dichorionic (two placentas)

DM:

Dermatomyositis

DMR:

Differentially methylated regions

DNA:

Deoxyribonucleic acid

DRD2:

Dopaminergic receptor D2

DZ:

Dizygotic

EEA:

Equal environments assumption

HUVEC:

Human umbilical vein endothelial cells

ICC:

Intraclass correlation

MC:

Monochorionic

MSRDA:

Methylation-sensitive representational difference analysis

MZ:

Monozygotic

PPIEL:

Peptidylprolyl isomerase E-like

RA:

Rheumatoid arthritis

RNA:

Ribonucleic acid

RRBS:

Reduced representation bisulphite sequencing

SLE:

Systemic lupus erythematosus

SMS:

Spermine synthase

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Authors and Affiliations

  1. Molecular Immunity, Murdoch Children’s Research Institute (MCRI), Parkville, VIC, Australia

    Richard Saffery

  2. Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia

    Richard Saffery

  3. Department of Twin Research and Genetic Epidemiology, Kings College London, London, UK

    Jordana T. Bell

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  1. Richard Saffery
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  2. Jordana T. Bell
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Correspondence to Richard Saffery .

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Editors and Affiliations

  1. Department of Epidemiology, UCLA Fielding School of Public Health, Los Angeles, USA

    Karin B. Michels

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Saffery, R., Bell, J.T. (2022). The Utility of Twins for Epigenetic Analysis. In: Michels, K.B. (eds) Epigenetic Epidemiology. Springer, Cham. https://doi.org/10.1007/978-3-030-94475-9_9

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