Detection of the four sequence variations of MDR1 gene using TaqMan® MGB probe based real-time PCR and haplotype analysis in healthy Japanese subjects

Saito, Katsuhiko; Miyake, Sachie; Moriya, Hajime; Yamazaki, Motoyoshi; Itoh, Fumio; Imai, Kohzoh; Kurosawa, Nahoko; Owada, Eiji; Miyamoto, Atsushi

doi:10.1016/s0009-9120(03)00092-4

Cited by 40 publications

(29 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Statistical significance was determined with the level of significance at P b 0.05. For pair-wise LD analysis in the present study and estimation of the haplotype of the individual, the methods used for the MDR1 gene in our previous study [19], population genetics data analysis based on the EM algorithm and the haplotype reconstruction method based on the Bayesian algorithm, were used. For the estimation of the maximum likelihood haplotype frequency between the polymorphic sites [20], the Chi-squared test of pair-wise LD [21] and the standardized disequilibrium coefficient D′, ARLEQUIN program version 2.0.1.1 (http://www.lgb.unige.ch/arlequin/) were used.…”

Section: Discussionmentioning

confidence: 99%

Haplotype analysis of UDP-glucuronocyltransferase 2B7 gene (UGT2B7) polymorphisms in healthy Japanese subjects

Saito

Moriya

Sawaguchi

et al. 2006

Clinical Biochemistry

Self Cite

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Haplotype analysis of UDP-glucuronocyltransferase 2B7 gene (UGT2B7) polymorphisms in healthy Japanese subjects

Saito

Moriya

Sawaguchi

et al. 2006

Clinical Biochemistry

Self Cite

View full text Add to dashboard Cite

“…These mutated alleles and the wt allele, which are regarded as predominant over other CYP2D6 alleles in the population, were selected based on a previous review on the frequency of CYP2D6 alleles in Japanese subjects. 27 The CYP3A5*3 allele and 2 ABCB1 variants were detected by real time PCR methods according to the previous reports by Mirghani et al 28 and Saito et al, 29 respectively.…”

Section: Methodsmentioning

confidence: 99%

Effects of Genetic Polymorphisms of CYP2D6, CYP3A5, and ABCB1 on the Steady-State Plasma Concentrations of Aripiprazole and Its Active Metabolite, Dehydroaripiprazole, in Japanese Patients With Schizophrenia

Suzuki

Mihara

Nakamura³

et al. 2014

Therapeutic Drug Monitoring

View full text Add to dashboard Cite

show abstract

“…28) Genomic DNA was isolated from whole blood using a QIAamp DNA Blood Kit (QIAGEN, Hilden, Germany) according to the manufacturer's directions. The PCR primers and TaqMan ® MGB probes for T-129C, G2677A, T and C3435T were reported previously.…”

Section: Methodsmentioning

confidence: 99%

“…The PCR primers and TaqMan ® MGB probes for T-129C, G2677A, T and C3435T were reported previously. 28) As for C1236T, the following TaqMan ® MGB probe and primers were designed using a software, Assaysby-Design TM (Applied Biosystems Japan, Tokyo, Japan): the C The MDR1 G2677T/C3435T haplotypes and genotypes were assigned according to the report of Johne et al, 27) which takes no account of the A 2677 -allele, but is often used for assessing the significance of haplotype analyses. [7][8][9][10][11][12] Additionally, the MDR1 haplotype were statistically inferred using an algorithm based on Bayesian inference, PHASE version 2.0.2 (http://www.stat.Washington.edu/stephens/).…”

Section: Methodsmentioning

confidence: 99%

MDR1 C3435T Polymorphism Is Predictive of Later Onset of Ulcerative Colitis in Japanese

Osuga

Sakaeda

Nakamura

et al. 2006

Biological & Pharmaceutical Bulletin

View full text Add to dashboard Cite

Inflammatory bowel diseases (IBDs), i.e., Crohn's disease (CD) and ulcerative colitis (UC), are characterized by chronic relapsing inflammatory disorders of the gastrointestinal tract, impairing quality of life. [1][2][3][4][5] Although the etiology of IBDs still remains unclear, nationwide epidemiologic studies have clarified that the geographic incidence varies substantially, with higher rates in Northern and Western Europe, and Northern America than in Central and Southern Europe and many developing countries.2-5) Epidemiologic and linkage studies strongly suggested the importance of a genetic factor for susceptibility to IBDs, but a genome-wide screening has identified a number of candidate loci, indicating the complexity of IBDs.6) Among candidates, recent attention has focused on the gene MDR1/ABCB1 and its product, multidrug resistant transporter MDR1/P-glycoprotein, which is a glycosylated membrane protein of 170 kDa, belonging to the ATP-binding cassette superfamily of membrane transporters, [7][8][9][10][11][12] as a consequence of several non-clinical and clinical investigations as summarized below. In 1998, Panwala et al. reported that mdr1a-/-knock-out mice were susceptible to a spontaneous UC-like intestinal inflammation under specific pathogen-free conditions. 13) Since mdr1a-/-knock-out mice are immunologically normal, the development of spontaneous colitis is presumably due to a defect in the barrier function of the intestinal epithelium. They also indicated that infection with Helicobacter bilis induced diarrhea, weight loss, and IBDs in mdr1a-/-knockout mice.14-16) Macroscopic, microscopic and biochemical examinations have confirmed that the colitis which develops in this model is similar to that of human IBDs, [14][15][16][17] and very recently, it has been confirmed that MDR1 mRNA expression in colonic tissues is down-regulated in patients with UC, but not with CD.18) Next, MDR1 is located on chromosome 7 at q21.1, 19) which was one of the loci of susceptibility toIBDs identified by a genome-wide analysis in an UK cohort, 6) and the linkage in this region has recently been confirmed by genome scan meta-analysis. 20) Finally, in 2003Finally, in -2005, independent groups in Germany and Scotland indicated that a silent genetic polymorphism in exon 26, C3435T, is associated with susceptibility to UC, but not to CD, 21,22) though the results are disputed. [23][24][25][26] In the present study, the MDR1 polymorphisms of T-129C in the promoter region, a silent C1236T in exon 12, G2677A, T in exon 21, resulting in Ala893Thr and Ala893Ser, respectively, and C3435T were examined in 66 Japanese UC patients and 173 healthy subjects, and their value for predicting UC was analyzed independently. The effects of the G2677T/C3435T haplotype proposed by Johne et al. were also evaluated,27) as well as those of the haplotype assigned by 4 polymorphisms. Here, the patients were stratified into 2 subpopulations based on age at onset; early onset patients and later onset patients, since epidemiologic investigatio...

show abstract

Detection of the four sequence variations of MDR1 gene using TaqMan® MGB probe based real-time PCR and haplotype analysis in healthy Japanese subjects

Cited by 40 publications

References 32 publications

Haplotype analysis of UDP-glucuronocyltransferase 2B7 gene (UGT2B7) polymorphisms in healthy Japanese subjects

Haplotype analysis of UDP-glucuronocyltransferase 2B7 gene (UGT2B7) polymorphisms in healthy Japanese subjects

Effects of Genetic Polymorphisms of CYP2D6, CYP3A5, and ABCB1 on the Steady-State Plasma Concentrations of Aripiprazole and Its Active Metabolite, Dehydroaripiprazole, in Japanese Patients With Schizophrenia

MDR1 C3435T Polymorphism Is Predictive of Later Onset of Ulcerative Colitis in Japanese

Contact Info

Product

Resources

About