Simultaneous Genotyping of Seven Single-Nucleotide Polymorphisms in the MDR1 Gene by Single-Tube Multiplex Minisequencing

Gwee, Pai-Chung; Tang, Kun; Chua, John M.Z.; Lee, Edmund J.D.; Chong, Samuel S.; Lee, Caroline

doi:10.1373/49.4.672

Cited by 25 publications

(15 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The ABCB1 3435T4C, 2677G/T,A and 1236T4C genotypes were determined by a single base extension method based on the procedure published by Gwee et al, 35 with several minor alterations. ABCG2 34G4A and 421C4A genotyping was performed using the LightCycler (Roche Diagnostics) allelic discrimination system.…”

Section: Laboratory Methodsmentioning

confidence: 99%

Synergistic interaction of ABCB1 and ABCG2 polymorphisms predicts the prevalence of toxic encephalopathy during anticancer chemotherapy

Kámory²,

Csókay³

et al. 2007

Pharmacogenomics J

View full text Add to dashboard Cite

Polymorphisms of the ABCB1 (MDR1) and ABCG2 (BCRP) genes were reported to alter the expression and function of these drug transporters. Both proteins are present at the main pharmacokinetic barriers including the blood-brain barrier. Data from 291 children with acute lymphoblastic leukaemia were analysed in this retrospective study. ABCB1 3435T4C, 2677G4T/A, 1236C4T and ABCG2 421C4A, 34G4A genotypes were determined. Encephalopathy episodes were more frequent among those with ABCB1 3435TT genotype than in the 3435CC/CT group (odds ratio (OR) 3.5; P ¼ 0.03). Patients with the ABCG2 421A allele tended to have more complications than wild type homozygotes (OR ¼ 2.0; P ¼ 0.25). The rate of the adverse effect was similar in those harbouring no or only one of the predisposing genotypes, that is, either ABCB1 3435TT or ABCG2 421AA/AC. However, significantly more children suffered encephalopathy in the group with both predisposing genotypes (OR ¼ 12.3; P ¼ 0.005). In conclusion, these variations exert synergistic effect in predisposing patients to toxic neurological complications of chemotherapy.

show abstract

Section: Laboratory Methodsmentioning

confidence: 99%

Synergistic interaction of ABCB1 and ABCG2 polymorphisms predicts the prevalence of toxic encephalopathy during anticancer chemotherapy

Kámory²,

Csókay³

et al. 2007

Pharmacogenomics J

View full text Add to dashboard Cite

show abstract

“…Technology for simultaneous diagnosis of a number of polymorphisms has undergone rapid development as has that for the haplotype assignments of genes. Gwee et al developed the single-tube multiplex mini-sequencing method [169]. Song et al proposed modifying the real time quantitative RT-PCR originally used for the quantification of mRNA into an analysis of genotypes [170].…”

Section: Perspectives In Pharmagogenomics Of Drug Transportersmentioning

confidence: 99%

Pharmacogenetics of Drug Transporters and Its Impact on the Pharmacotherapy

Sakaeda¹,

Nakamura²,

Okumura

2004

CTMC

View full text Add to dashboard Cite

Most drug responses are determined by the interplay of several gene products that influence pharmacokinetics and pharmacodynamics, i.e., drug metabolizing enzymes, drug transporters, and drug targets. With the sequencing of the human genome, it has been estimated that approximately 500-1200 genes code for drug transporters. Concerning the effects of genetic polymorphisms on pharmacotherapy, the best characterized drug transporter is the multidrug resistant transporter P-glycoprotein/MDR1, the gene product of MDR1. Little such information is available on other drug transporters. MDR1 is a glycosylated membrane protein of 170 kDa, belonging to the ATP-binding cassette superfamily, and is expressed mainly in intestines, liver, kidneys and brain. A number of various types of structurally unrelated drugs are substrates for MDR1, and their intestinal absorption, hepatobiliary secretion, renal secretion and brain transport are regulated by MDR1. The first investigation on the effects of MDR1 genotypes on pharmacotherapy was reported in 2000: a silent single nucleotide polymorphism (SNP), C3435T in exon 26, was found to be associated with the duodenal expression of MDR1, and thereby the plasma concentration of digoxin after oral administration. At present, a total of 28 SNPs have been found at 27 positions on the MDR1 gene. Clinical investigations on the association of MDR1 genotypes with the expression and function of MDR1 in tissues, and with pharmacokinetics and pharmacodynamics have mainly focused on C3435T; however, there are still discrepancies in the results, suggesting that the haplotype of the gene should be analyzed instead of a SNP. C3435T is also reported to be a risk factor for a certain class of diseases including the inflammatory bowel diseases, Parkinson's disease and renal epithelial tumor, and this also might be explained by the effects on MDR1 expression and function. In this review, the latest reports on the effects of genetic polymorphisms of MDR1 on pharmacotherapy are summarized, and the pharmacogenetics of other transporters is briefly introduced.

show abstract

“…In the last few years interest in point mutations also known as single nucleotide polymorphism (SNPs) has increased as a result of their numerous applications in medical genetics [1][2][3] (i.e. diagnosis of diseases and studies of pharmacological response), in human and evolutionary genetics [3], and also in the forensic field [4].…”

Section: Introductionmentioning

confidence: 99%

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

Quintáns

Álvarez-Iglesias

Salas

et al. 2004

Forensic Science International

163

140

View full text Add to dashboard Cite

Simultaneous Genotyping of Seven Single-Nucleotide Polymorphisms in the MDR1 Gene by Single-Tube Multiplex Minisequencing

Abstract: ) supplied CRP antibodies for the IRMA and helped in setting up the assay in our laboratory.

Cited by 25 publications

References 10 publications

Synergistic interaction of ABCB1 and ABCG2 polymorphisms predicts the prevalence of toxic encephalopathy during anticancer chemotherapy

Synergistic interaction of ABCB1 and ABCG2 polymorphisms predicts the prevalence of toxic encephalopathy during anticancer chemotherapy

Pharmacogenetics of Drug Transporters and Its Impact on the Pharmacotherapy

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

Contact Info

Product

Resources

About