Maternal outcomes related to Genetic and epigenetic Variation in the oxytocin system: A scoping review

Sarah R. Weinstein, Elise N. Erickson, Rodin Molina, Aleeca F. Bell

Research output: Contribution to journalReview articlepeer-review


Purpose: In this scoping review, we synthesize the literature on oxytocin and oxytocin receptor genetic and epigenetic variation in relationship to breastfeeding, maternal caregiving behavior, and maternal mental health. Methods: A literature search was conducted in early 2022, and updated in 2023, utilizing the PRISMA scoping review reporting method, using the following MeSH headings and key terms: oxytocin, oxytocin receptor, genetics, epigenetics, methylation, pregnancy, postnatal, breastfeeding, lactation, mother-infant relations and perinatal outcomes. The search was conducted using PubMed, EMBASE, CINAHL, Google Scholar, SCOPUS, and the Cochrane Library. Inclusion criteria included: human literature which was peer reviewed and found in primary sources, printed in the English language. In addition, the study must have reported genetic/epigenetic data in either the oxytocin or oxytocin receptor gene (maternal or infant up to 12 months after birth) in relation to a breastfeeding, maternal caregiving behavior or a maternal mental health outcome. There was no date limitation. Four authors reviewed studies for eligibility. Data was extracted using a structured data extraction form. Results: A total of 23 studies met inclusion criteria for this review (breastfeeding n = 4, maternal caregiving behavior n = 7, and maternal mental health n = 16). Seventeen papers reported on oxytocin or oxytocin receptor genotype and nine reported epigenetic associations (namely DNA methylation). These totals are greater than 23, as studies reported on multiple outcomes. One paper assessed the interaction between genotype and methylation. While a number of genotype variations were reported, the single nucleotide polymorphism rs53576 on the oxytocin receptor gene was the most studied. Overall, variation in this polymorphism was related to postnatal depression symptoms. Among numerous epigenetic markers, site −934 was the most studied methylation site, and methylation status was associated with maternal depression and maternal caregiving behavior outcomes. Results suggest that early life experiences impact adult maternal caregiving behaviors and mental health outcomes, and vary based on genetic vulnerability. Breastfeeding outcomes were minimally studied. Conclusion: This scoping review found that genetic and epigenetic variation at the oxytocin and oxytocin receptor genes were associated with maternal caregiving behavior and mental health, likely through complex gene and environment interactions. The findings suggest that maternal early life experiences and stress impact later caregiving behaviors and mental health in the postnatal period. The findings highlight potential pathways by which environment, experiences, and genes interact to impact maternal caregiving behavior and maternal mental health.

Original languageEnglish (US)
Article number100209
JournalComprehensive Psychoneuroendocrinology
StatePublished - Nov 2023
Externally publishedYes


  • Breastfeeding
  • DNA methylation
  • Genetics
  • Maternal behavior
  • Mental health
  • Oxytocin

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Immunology
  • Psychology (miscellaneous)
  • Endocrine and Autonomic Systems
  • Clinical Neurology
  • Psychiatry and Mental health
  • Biological Psychiatry


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