MDR-1 gene polymorphisms and clinical course of steroid-responsive nephrotic syndrome in children

Wasilewska, Anna; Zalewski, Grzegorz; Chyczewski, L; Zoch-Zwierz, W

doi:10.1007/s00467-006-0275-3

Cited by 48 publications

(46 citation statements)

References 33 publications

(28 reference statements)

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“…We fail to detect the mutant A allele in locus 2677, and this finding is in line with previously published data where this allele is absent in most of the European populations [32,30]. The absence of this allele might have been result of small population size of study group.…”

Section: Discussionsupporting

confidence: 92%

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Genotype Variability and Haplotype Profile of Abcb1 (Mdr1) Gene Polymorphisms in Macedonian Population

Naumovska

Nestorovska

Sterjev

et al. 2014

Prilozi

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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 C1236T [rs1128503], G2677A/T [rs2032582] and C3435T [rs1045642] were analyzed by Real-Time PCR. Obtained allele frequencies for these three SNPs were similar to those observed in other European Caucasians. The detected genotype frequencies were 33.6% for 1236CC, 44.9% for 1236CT and 21.5% for 1236TT in exon 12; 32.7%, 44.9% and 22.4% for 2677GG, 2677GT and 2677GT consecutively in exon 21; and 25.2% for 3435CC, 52.3% for 3435CT and 22.5% for 3435TT in exon 26.Strong LD was observed in our study among all = 0.859, r 2 = 0.711). Eight different haplotypes were identified and the most prominent was the CGC haplotype (45.3%). Our study was the first to have documented the distribution of ABCB1 alleles, genotypes and haplotypes in the population of R. Macedonia. The obtained results can help in the prediction of different response to the drugs that are P-glycoprotein substrates. Additionally, in the era of individualized medicine the determination of the P-glycoprotein genotype might be a good predictive marker for determination of the subpopulations with higher risk to certain diseases.

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Section: Discussionsupporting

confidence: 92%

“…These polymorphic variants are potential determinants of inter-individual and inter-ethnical variability in drug response [29][30][31] and susceptibility to certain diseases.…”

Section: Discussionmentioning

confidence: 99%

Genotype Variability and Haplotype Profile of Abcb1 (Mdr1) Gene Polymorphisms in Macedonian Population

Naumovska

Nestorovska

Sterjev

et al. 2014

Prilozi

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“…All infants were Caucasian. Clinical and demographic data are shown in 2% gel G2677T [28] 5 ′-TGCAGGCTATAGGTTCCAGG-3′ BanI 37°C 90 min 5′-TTTAGTTTGACTCACCTTCCCG-3′ 3% gel C1236T [29] 5 ′-TATCCTGTGTCTGTGAATTGCC -3′…”

Section: Resultsmentioning

confidence: 99%

“…For ABCB1 gene, the PCR consisted of an initial denaturation step at 94°C for 3 min, 35 cycles of 94°C for 30 s, 55°C for 30 s, 72°C for 30 s, and 1 cycle of 72°C for 7 min [28,29]. To evaluate all NR3C1 polymorphisms, DNA was amplified by a single PCR program, consisting on 95°C for 7 min, 40 cycles of 94°C for 1 min, 56°C for 1 min, 72°C for 1 min, and 1 cycle of 72°C for 7 min [30,31].…”

Section: Genetic Analysismentioning

confidence: 99%

Glutathione-S-transferase-P1 I105V polymorphism and response to antenatal betamethasone in the prevention of respiratory distress syndrome

Oretti

Marino

Mosca³

et al. 2009

Eur J Clin Pharmacol

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PHARMACOGENETICSGlutathione-S-transferase-P1 I105V polymorphism and response to antenatal betamethasone in the prevention of respiratory distress syndrome Abstract Purpose The aim of this pilot study was to assess the association between polymorphisms in genes that encode for proteins involved in the pharmacokinetics/pharmacodynamics of glucocorticoids and the occurrence of respiratory distress syndrome (RDS) in preterm infants born to mothers treated with a complete course of betamethasone. Methods Sixty-two preterm infants were enrolled. The C1236T, G2677T, and C3435T polymorphisms in the ABCB1 gene, BclI, N363S and ER22/23EK in the NR3C1 gene, I105V in the GST-P1 gene and GST-M1 and GST-T1 deletions were analyzed, and their association with the occurrence of RDS was assessed. Results In univariate analysis, the heterozygous and homozygous presence of the I105V variant in the GST-P1 gene seemed to confer protection against the occurrence of RDS (P=0.032), while no association for all other polymorphisms was observed. In multivariate analysis, selection from the reference model of independent variables based on AIC (Akaike information criteria) maintained three variables in the model: gestation, C3435T, and GST-P1 genotype.

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“…The high expression of P-gp in the peripheral blood lymphocytes of patients with systemic lupus erythematosus resulted indecreased lymphocyte glucocorticoid levels, steroid-resistance, and reduced efficacy (Hibi et al, 2003). A study by Wasilewska et al (2007) also showed that steroid-resistance or -dependence in children with nephrotic syndrome was related to P-gp expression in peripheral lymphocytes.…”

Section: Discussionmentioning

confidence: 99%

Multidrug resistance gene and its relationship to ulcerative colitis and immune status of ulcerative colitis

Zhang

Wang

et al. 2014

Genet. Mol. Res.

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ABSTRACT. We examined the relationship among the multidrug resistance (MDR1) gene product P-glycoprotein (P-gp), ulcerative colitis, and immune status under ulcerative colitis. MDR1 P-gp expression and interleukin-8 levels in ulcerative colitis were determined using immunohistochemistry and a double-antibody sandwich avidinbiotin complex-enzyme-linked immunosorbent assay, respectively. Nitric oxide content and nitric oxide synthase activity in the colonic mucosa were determined using a colorimetric method; CD4 + and CD25 + T cell subset percentages in the peripheral blood were determined by flow cytometry. The positive expression rate of P-gp in patients with ulcerative colitis (17.4%) was significantly lower than that in the control group (31.4%). The expression rate decreased to 10.1, 9.2, and 8.3% after 12, 18, and 24 months of treatment, respectively, which were significantly lower than the expression rate before treatment (17.4%). P-gp expression levels during the remission phase and active phase of ulcerative colitis were 15.2 and 17.1%, respectively, which were significantly lower than that in normal controls (31.4%). Compared with P-gp-negative patients, nitric oxide content, nitric oxide synthase activity, and interleukin-8 levels were significantly higher in P-gppositive patients with moderately active, severely active, early onset, chronic relapsing, chronic persistent, and acute fulminant ulcerative colitis. CD4 + and CD25 + T cell subsets were significantly lower in the peripheral blood of patients with severely active and acute fulminant ulcerative colitis than in control subjects. Expression of the multidrug resistance gene and its product P-gp was observed in normal colon tissues and may be closely related to ulcerative colitis.

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MDR-1 gene polymorphisms and clinical course of steroid-responsive nephrotic syndrome in children

Cited by 48 publications

References 33 publications

Genotype Variability and Haplotype Profile of Abcb1 (Mdr1) Gene Polymorphisms in Macedonian Population

Genotype Variability and Haplotype Profile of Abcb1 (Mdr1) Gene Polymorphisms in Macedonian Population

Glutathione-S-transferase-P1 I105V polymorphism and response to antenatal betamethasone in the prevention of respiratory distress syndrome

Multidrug resistance gene and its relationship to ulcerative colitis and immune status of ulcerative colitis

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