Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins

Daud, A. N. A., Bergman, J. E. H., Bakker, M. K., Wang, H., de Walle, H. E. K., Plosch, T. & Wilffert, B., May-2014, In : Pharmacogenomics. 15, 7, p. 1029-1041 13 p.

Research output: Contribution to journalReview articleAcademicpeer-review

One of the ongoing issues in perinatal medicine is the risk of birth defects associated with maternal drug use. The teratogenic effect of a drug depends, apart from other factors, on the exposition of the fetus to the drug. Transporter proteins are known to be involved in the pharmacokinetics of drugs and have an effect on drug level and fetal drug exposure. This condition may subsequently alter the risk of teratogenicity, which occurs in a dose-dependent manner. This review focuses on the clinically important polymorphisms of transporter proteins and their effects on the mRNA and protein expression in placental tissue. We also propose a novel approach on how the different genotypes of the polymorphism can be translated into phenotypes to facilitate genetic association studies. The last section looks into the recent studies exploring the association between P-glycoprotein polymorphisms and the risk of fetal birth defects associated with medication use during pregnancy.

Original languageEnglish
Pages (from-to)1029-1041
Number of pages13
Issue number7
Publication statusPublished - May-2014


  • breast cancer resistance protein, drug-induced birth defects, multidrug-associated resistance protein, organic anion transporting polypeptides, pharmacogenetics, placenta, placental transporter proteins, ORGANIC CATION TRANSPORTER, SINGLE NUCLEOTIDE POLYMORPHISMS, 1 MATE1/SLC47A1 TRANSPORTER, MULTIDRUG-RESISTANCE GENE, P-GLYCOPROTEIN EXPRESSION, PERFUSED HUMAN PLACENTA, OVARIAN-CANCER, PACLITAXEL CHEMOTHERAPY, FUNCTIONAL ASSESSMENT, EFFLUX TRANSPORTERS

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