Chimerism in health and potential implications on behavior: A systematic review

Brandon N Johnson, Erik A Ehli, Gareth E Davies, Dorret I Boomsma

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In this review, we focus on the phenomenon of chimerism and especially microchimerism as one of the currently underexplored explanations for differences in health and behavior. Chimerism is an amalgamation of cells from two or more unique zygotes within a single organism, with microchimerism defined by a minor cell population of <1%. This article first presents an overview of the primary techniques employed to detect and quantify the presence of microchimerism and then reviews empirical studies of chimerism in mammals including primates and humans. In women, male microchimerism, a condition suggested to be the result of fetomaternal exchange in utero, is relatively easily detected by polymerase chain reaction molecular techniques targeting Y-chromosomal markers. Consequently, studies of chimerism in human diseases have largely focused on diseases with a predilection for females including autoimmune diseases, and female cancers. We detail studies of chimerism in human diseases and also discuss some potential implications in behavior. Understanding the prevalence of chimerism and the associated health outcomes will provide invaluable knowledge of human biology and guide novel approaches for treating diseases.

Original languageEnglish
Pages (from-to)1513-1529
Number of pages17
JournalAmerican Journal of Medical Genetics Part A
Issue number6
Early online date25 Mar 2020
Publication statusPublished - Jun 2020

Cohort Studies

  • Netherlands Twin Register (NTR)


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