Introduction to Epigenetics

Early life experiences exert a profound and long-lasting influence on physical and mental health throughout life. The efforts to identify the primary causes of this have significantly benefited from studies of the epigenome—a dynamic layer of information associated with DNA that differs between individuals and can be altered through various experiences and environments. The epigenome has been heralded as a key “missing piece” of the etiological puzzle for understanding how development of psychological disorders may be influenced by the surrounding environment, in concordance with the genome. Understanding the mechanisms involved in the initiation, maintenance, and heritability of epigenetic states is thus an important aspect of research in current biology, particularly in the study of learning and memory, emotion, and social behavior in humans. Moreover, epigenetics in psychology provides a framework for understanding how the expression of genes is influenced by experiences and the environment to produce individual differences in behavior, cognition, personality, and mental health. In this module, we survey recent developments revealing epigenetic aspects of mental health and review some of the challenges of epigenetic approaches in psychology to help explain how nurture shapes nature.

Learning Objectives

  • Explain what the term epigenetics means and the molecular machinery involved.
  • Name and discuss important neural and developmental pathways that are regulated by epigenetic factors, and provide examples of epigenetic effects on personality traits and cognitive behavior.
  • Understand how misregulation of epigenetic mechanisms can lead to disease states, and be able to discuss examples.
  • Recognize how epigenetic machinery can be targets for therapeutic agents, and discuss examples.


Early childhood is not only a period of physical growth; it is also a time of mental development related to changes in the anatomy, physiology, and chemistry of the nervous system that influence mental health throughout life. Cognitive abilities associated with learning and memory, reasoning, problem solving, and developing relationships continue to emerge during childhood. Brain development is more rapid during this critical or sensitive period than at any other, with more than 700 neural connections created each second. Herein, complex gene–environment interactions (or genotype–environment interactions, G×E) serve to increase the number of possible contacts between neurons, as they hone their adult synaptic properties and excitability. Many weak connections form to different neuronal targets; subsequently, they undergo remodeling in which most connections vanish and a few stable connections remain. These structural changes (or plasticity) may be crucial for the development of mature neural networks that support emotional, cognitive, and social behavior. The generation of different morphology, physiology, and behavioral outcomes from a single genome in response to changes in the environment forms the basis for “phenotypic plasticity,” which is fundamental to the way organisms cope with environmental variation, navigate the present world, and solve future problems.

The challenge for psychology has been to integrate findings from genetics and environmental (social, biological, chemical) factors, including the quality of infant–mother attachments, into the study of personality and our understanding of the emergence of mental illness. These studies have demonstrated that common DNA sequence variation and rare mutations account for only a small fraction (1%–2%) of the total risk for inheritance of personality traits and mental disorders (Dick, Riley, & Kendler, 2010; Gershon, Alliey-Rodriguez, & Liu, 2011). Additionally, studies that have attempted to examine the mechanisms and conditions under which DNA sequence variation influences brain development and function have been confounded by complex cause-and-effect relationships (Petronis, 2010). The large unaccounted heritability of personality traits and mental health suggests that additional molecular and cellular mechanisms are involved.

Epigenetics has the potential to provide answers to these important questions and refers to the transmission of phenotype in terms of gene expression in the absence of changes in DNA sequence—hence the name epi- (Greek: επί- over, above) genetics (Waddington, 1942; Wolffe & Matzke, 1999). The advent of high-throughput techniques such as sequencing-based approaches to study the distributions of regulators of gene expression throughout the genome led to the collective description of the “epigenome.” In contrast to the genome sequence, which is static and the same in almost all cells, the epigenome is highly dynamic, differing among cell types, tissues, and brain regions (Gregg et al., 2010). Recent studies have provided insights into epigenetic regulation of developmental pathways in response to a range of external environmental factors (Dolinoy, Weidman, & Jirtle, 2007). These environmental factors during early childhood and adolescence can cause changes in expression of genes conferring risk of mental health and chronic physical conditions. Thus, the examination of genetic–epigenetic–environment interactions from a developmental perspective may determine the nature of gene misregulation in psychological disorders.

This module will provide an overview of the main components of the epigenome and review themes in recent epigenetic research that have relevance for psychology, to form the biological basis for the interplay between environmental signals and the genome in the regulation of individual differences in physiology, emotion, cognition, and behavior.