A synonymous polymorphism in a common MDR1 (ABCB1) haplotype shapes protein function
نویسندگان
چکیده
منابع مشابه
A MDR1 (ABCB1) gene single nucleotide polymorphism predicts outcome of temozolomide treatment in glioblastoma patients.
BACKGROUND Some patients with glioblastoma multiform do not respond to temozolomide even though they have aberrant promoter methylation of the DNA repair enzyme O(6)-methylguanine methyltransferase (MGMT). This suggests that additional factors hamper temozolomide cytotoxicity. We aimed to confirm first that temozolomide is a target for the multidrug resistance transporter MDR1/ABCB1 and second ...
متن کاملHaplotype-oriented genetic analysis and functional assessment of promoter variants in the MDR1 (ABCB1) gene.
Recently, a number of nucleotide variants have been described in the multidrug resistance 1 (MDR1/ABCB1) gene; however, most studies have focused on the coding region. In the present study, we identified promoter variants of the MDR1 gene and evaluated their phenotypic consequences using a reporter gene assay and the real-time polymerase chain reaction method. Ten allelic variants were detected...
متن کاملGenotype variability and haplotype profile of ABCB1 (MDR1) gene polymorphisms in Macedonian population.
The aim of this study was to evaluate the most common ABCB1 (MDR1, P-glycoprotein) polymorphisms in the population of R. Macedonia and compare the allele and haplotype frequencies with the global geographic data reported from different ethnic populations. The total of 107 healthy Macedonian individuals from the general population was included. Genotypes for the ABCB1 for three polymorphisms C12...
متن کاملABCB1/MDR1 gene polymorphism and colorectal cancer risk: a meta-analysis of case-control studies.
AIM ABCB1/MDR1 protein is found in high concentrations on the apical surfaces of colonic epithelial cells. It acts as an efflux pump by transporting toxic endogenous substances, drugs and xenobiotics out of cells. Polymorphisms in the ABCB1/MDR1 gene may either change expression of the ABCB1/MDR1 protein or alter its function, suggesting its possible association with colorectal cancer. Several ...
متن کاملGenetic variability and haplotype profile of MDR1 (ABCB1) in Roma and Hungarian population samples with a review of the literature.
The genetic variability, haplotype profile and ethnic differences of MDR1 polymorphisms in healthy Roma and Hungarian populations were analyzed and the results were compared with those of other populations available from the literature. Healthy subjects (465 Roma and 503 Hungarian) were genotyped for C1236T, G2677T/A and C3435T variants of MDR1 by PCR-RFLP assay. Differences were found between ...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics
سال: 2009
ISSN: 1570-9639
DOI: 10.1016/j.bbapap.2009.02.014