title: Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins.
abstract: 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.
authors: Unit of Pharmacotherapy & Pharmaceutical Care, Department of Pharmacy, University of Groningen, 9713AV Groningen, The Netherlands.
authors: Aizati N A
authors: AN
authors: Daud
authors: Jorieke E H
authors: JE
authors: Bergman
authors: Marian K
authors: MK
authors: Bakker
authors: Hao
authors: H
authors: Wang
authors: Hermien E K
authors: HE
authors: de Walle
authors: Torsten
authors: T
authors: Plösch
authors: Bob
authors: B
authors: Wilffert
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000014:Abnormalities, Drug-Induced / Q000235:genetics* / Q000473:pathology; D000013:Congenital Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D018507:Gene Expression Regulation, Developmental / Q000187:drug effects; D006801:Humans; D007231:Infant, Newborn; D010597:Pharmacogenetics; D010920:Placenta / Q000187:drug effects; D011247:Pregnancy
chemical_list: D018528:ATP-Binding Cassette Transporters
keywords: breast cancer resistance protein; drug-induced birth defects; multidrug-associated resistance protein; organic anion transporting polypeptides; pharmacogenetics; placenta; placental transporter proteins