title: Genetic analysis of coding SNPs in blood-brain barrier transporter MDR1 in European Parkinson's disease patients.
abstract: Parkinson's disease (PD) is characterized by the loss of dopaminergic neurons and the presence of intracytoplasmic inclusions (Lewy bodies). Iron, which is elevated in the substantia nigra of PD patients, seems to be of pivotal importance, because of its capacity to enhance the amplification of reactive oxygen species. As iron enters and exits the brain via transport proteins in the blood-brain barrier (BBB), these proteins may represent candidates for a genetic susceptibility to PD. P-glycoprotein (P-gp) is one important efflux pump in the BBB. There is evidence that the function of P-gp is impaired in PD patients. In the current study we examined ten coding single nucleotide polymorphisms in the multidrug resistance gene 1 (MDR1) encoding P-gp to assess whether certain genotypes are associated with PD. However, genotyping of 300 PD patients and 302 healthy controls did not reveal a significant association between coding MDR1 gene polymorphisms and PD.
authors.affiliation: Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany. claudia.funke@med.uni-tuebingen.de
authors.forename: Claudia
authors.initials: C
authors.lastname: Funke
authors.forename: Anne S
authors.initials: AS
authors.lastname: Soehn
authors.forename: Juergen
authors.initials: J
authors.lastname: Tomiuk
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
authors.forename: Daniela
authors.initials: D
authors.lastname: Berg
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001812:Blood-Brain Barrier / Q000378:metabolism; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005060:Europe; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1