Effects of early-life environment and epigenetics on cardiovascular disease risk in children: Highlighting the role of twin studies

Cong Sun, David P. Burgner, Anne Louise Ponsonby, Richard Saffery, Rae-Chi Huang, Peter J. Vuillermin, Michael M H Cheung, Jeffrey Mark Craig

Research output: Contribution to journalReview ArticleOtherpeer-review

58 Citations (Scopus)


Cardiovascular disease (CVD) is the leading cause of death worldwide and originates in early life. The exact mechanisms of this early-life origin are unclear, but a likely mediator at the molecular level is epigenetic dysregulation of gene expression. Epigenetic factors have thus been posited as the likely drivers of early-life programming of adult-onset diseases. This review summarizes recent advances in epidemiology and epigenetic research of CVD risk in children, with a particular focus on twin studies. Classic twin studies enable partitioning of phenotypic variance within a population into additive genetic, shared, and nonshared environmental variances, and are invaluable in research in this area. Longitudinal cohort twin studies, in particular, may provide important insights into the role of epigenetics in the pathogenesis of CVD. We describe candidate gene and epigenome-wide association studies (EWASs) and transgenerational epigenetic inheritance of CVD, and discuss the potential for evidence-based interventions. Identifying epigenetic changes associated with CVD-risk biomarkers in children will provide new opportunities to unravel the underlying biological mechanism of the origins of CVD and enable identification of those at risk for early-life interventions to alter the risk trajectory and potentially reduce CVD incidence later in life.

Original languageEnglish
Pages (from-to)523-530
Number of pages8
JournalPediatric Research
Issue number4-2
Publication statusPublished - Apr 2013
Externally publishedYes

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