title: Genomic variation at the MDR1 promoter and P-glycoprotein expression and activity in AML patients.
abstract: Sequence variation at the proximal MDR1 promoter of 72 patients with acute myeloid leukemia (AML) was investigated and its association with P-glycoprotein (Pgp) expression and activity using flow cytometry were analyzed. Two variants were found: -129T/C and a non-described A/T substitution at position +68 of intron 1 in one patient. Three different genotypes were identified for single nucleotide polymorphism (SNP) -129T/C: 60 patients TT, 11 individuals TC, and 1 CC. No significant association was found between SNP variants and Pgp activity and expression, at protein level. Our data also suggested that an evaluation of MDR1 promoter polymorphisms is of uncertain prognostic value.
authors.affiliation: Instituto Nacional de Câncer, Coordenação de Pesquisa, Genetics Division, Rio de Janeiro, RJ, Brazil.
authors.forename: J J
authors.initials: JJ
authors.lastname: Lourenço
authors.forename: R C
authors.initials: RC
authors.lastname: Maia
authors.forename: M A M
authors.initials: MA
authors.lastname: Scheiner
authors.forename: F C
authors.initials: FC
authors.lastname: Vasconcelos
authors.forename: M A M
authors.initials: MA
authors.lastname: Moreira
mesh_terms: D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics* / Q000378:metabolism*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005434:Flow Cytometry; D015972:Gene Expression Regulation, Neoplastic; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D012333:RNA, Messenger