Archives of Toxicology

, Volume 90, Issue 11, pp 2563–2581 | Cite as

Genetics of the human placenta: implications for toxicokinetics

  • Claudia Gundacker
  • Jürgen Neesen
  • Elisabeth Straka
  • Isabella Ellinger
  • Helmut Dolznig
  • Markus Hengstschläger
Review Article


Exposure to chemicals and environmental pollutants among them cadmium, lead, and mercury can harm reproduction. The metals cross the placenta, accumulate in placental tissue, and pass onto fetal blood and fetal organs to variable amounts. Still, the mechanisms underlying their transplacental passage are largely unknown and the human placenta is the most poorly understood organ in terms of reproduction toxicology. The genetic factors modulating placental toxicokinetics remain unclear just as well. From a genetic perspective, three aspects, which influence capacities of the human placenta to metabolize and transport toxicants, need to be considered. These are 1/presence and interplay of two genotypes, 2/chromosomal aberrations including aneuploidies and sequence variations, and 3/epigenetics and genetic imprinting. In this review, we summarize the current state of knowledge on how genetics and epigenetics affect placental (patho)physiology and thus fetal development and health.


Genotype Aneuploidies Sequence variation SNP Epigenetics Imprinting 


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  1. 1.Institute of Medical Genetics, Center of Pathobiochemistry and GeneticsMedical University of ViennaViennaAustria
  2. 2.Department of Pathophysiology and Allergy Research, Center for Pathophysiology, Infectiology and ImmunologyMedical University of ViennaViennaAustria

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