Effect of Epigenetic Differences in Identical Twins

  • Tanya L. Schwab
  • Tara L. HogensonEmail author
Reference work entry


Monozygotic (MZ) twins are an ideal model for scientific research since many of the confounding factors associated with most human studies, such as DNA sequence and environment, can be eliminated. Although MZ twins are genetically identical, they typically display some level of phenotypic discordance. With the emergence of the study of epigenetics, scientists have hypothesized that differences in epigenetic marks may account for some phenotypic discordance in MZ twins. Comparative analysis of the epigenomes of MZ twins discordant for disease, including cancer, obesity, and diabetes, has led to the identification of epigenetic modifications, including changes in DNA methylation, histone marks, and differences in microRNA expression, that may contribute to the disease phenotype. Following identification of these changes, researchers are working to elucidate both the cause and the potential mechanism by which these modifications may lead to disease. Understanding how epigenetic modifications drive changes in phenotype using MZ twin studies may serve as a powerful tool in identifying new experimental opportunities in health and disease.


Monozygotic twin Dizygotic twin Classical twin model Case co-twin model Twin discordance Heritability Cancer Diabetes Obesity Psychiatric disorders 

List of Abbreviations


Alzheimer’s disease


Acute myeloid leukemia


Assisted reproductive technology


Bisphenol A


Beckwith-Wiedemann syndrome


Copy number variation


Corticotrophin-releasing factor


Clustered regularly interspaced short palindromic repeat




Inner cell mass




Single nucleotide polymorphism




Transcription activator-like effector nuclease


Type 1 diabetes


Type 2 diabetes


Zinc finger nuclease


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Biochemistry and Molecular BiologyMayo ClinicRochesterUSA
  2. 2.Schulze Center for Novel TherapeuticsMayo ClinicRochesterUSA

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