Multi-drug resistance-1 gene polymorphisms in nephrotic syndrome: Impact on susceptibility and response to steroids

Youssef, Doaa Mohammed; Attia, Tarek Hamed; El‐Shal, Amal S.; Abduelometty, Fawzya A.

doi:10.1016/j.gene.2013.08.045

Cited by 31 publications

(44 citation statements)

References 40 publications

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“…1). [14–17,31–35] All of the participants in these studies were children consisting of 928 patients with INS and 879 healthy controls; moreover, steroid resistance data were available for 724 patients comprising 488 patients with SS and 236 patients with SR, which were compared. The subjects in 4 studies were Asian [16,17,34,35] and those from the other 5 were Caucasian.…”

Section: Resultsmentioning

confidence: 99%

“…The subjects in 4 studies were Asian [16,17,34,35] and those from the other 5 were Caucasian. [14,15,31–33] Seven studies reported genotype frequencies between patients with INS and healthy controls, [14–16,31,32,34,35] and 7 studies showed the genotype data of SS and SR groups. [14–17,32,33,35] Haplotype frequencies of both case and control cohorts were described in part in 4 studies.…”

Section: Resultsmentioning

confidence: 99%

“…However, these studies yielded inconsistent results. Youssef et al [14] reported that the T allele and TT genotype of rs1045642, and the T allele and GT, TT, and TT + AA genotypes of rs2032582 were significantly increased in patients with INS, but no significant evidence of association was found with any of these 3 SNPs in the cohort tested by Cizmarikova et al [15] Jafar et al [16] showed that the frequencies of homozygous mutant TT/AA genotypes of rs2032582 were significantly increased in affected children with steroid resistance, whereas Chiou et al [17] observed a trend with the T allele of rs1128503 in their cohort.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome

Han

Xu²,

Lü³

et al. 2017

Medicine

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome

Han

Xu²,

Lü³

et al. 2017

Medicine

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“…Both origins are genetically dissimilarities for centuries. MDR-1 gene polymorphisms of the South Indian population are significantly different from other populations [13]. Patients from Northern India showed that NS patients carrying homozygous mutations in G2677T/C are more prone to developing steroid resistance.…”

Section: Ganesan Et Almentioning

confidence: 89%

IDENTIFICATION OF FUNCTIONAL SNPs OF MDR1 GENE AMONG NEPHROTIC SYNDROME CHILDREN IN SOUTH INDIA

Arumugam

2017

Asian J Pharm Clin Res

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Objective: This study was conducted to determine the frequency of C3435T and G2677T/C single nucleotide polymorphisms of multi drug resistance gene -1 (MDR1) in nephrotic syndrome (NS) children in relation to healthy subjects. The role and association of these SNPs were also determined, whether response and/or resistance to steroid treatment in children with NS in south India. Methods:Genomic DNA was isolated from 371 blood samples collected from children with NS and controls. Among 173 cases, categorized into steroid-resistant NS (SRNS) were 90 and steroid-sensitive NS (SSNS) were 83 and 198 blood samples were included as controls. All samples were subjected to DNA extraction, and polymerase chain reaction followed by restriction fragment length polymorphism for identification of C3435T and G2677T/C genomic variations. Results:The frequencies of MDR-1 C3435T, CT, TT, and CC genotypes and SNP G2677T/C GG and G allele genotypes were observed in this study group. In SRNS, children showed significantly higher frequencies of MDR-1 C3435T, CT, TT, and TT+CC genotypes were observed than SRNS and controls. The allele frequencies of SRNS children showed CC -4%, CT -32% and TT -12% and in SSNS children, CC -10.98%, CT -27.2% and TT -13.9% were observed. Furthermore, increased frequencies of MDR-1 C3435T CT, TT, TT+CC genotypes, or T allele were observed in children aged <9 years old. There were no different genotype and allele frequency observed in G2677T/C genotypes NS children and controls. Conclusion:Based on these data, we are suggesting that MDR-1 C3435T gene polymorphisms are risk factors of increased susceptibility, earlier onset of NS as well as leads to steroid resistance. Whereas SNP G2677T/C gene polymorphisms do not have significant role observed in this study population.

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“…For example, renal transplant recipients with homozygous mutation in G2677T/A require higher tacrolimus dose than recipients without such mutation to receive the same therapeutic effect27. The MDR1 C3435T and G2677T/A polymorphisms are risk factors for increased susceptibility to nephrotic syndrome and steroid resistance28. It is currently unclear whether MDR1 genetic polymorphisms can affect the pharmacokinetics and toxicities of PQ.…”

Section: Discussionmentioning

confidence: 99%

Effect of MDR1 gene polymorphisms on mortality in paraquat intoxicated patients

Kim

Kwon

et al. 2016

Sci Rep

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Paraquat is a fatal herbicide following acute exposure. Previous studies have suggested that multidrug resistance protein 1 (MDR1) might help remove paraquat from the lungs and the kidney. MDR1 single-nucleotide polymorphisms (SNPs) are involved in the pharmacokinetics of many drugs. The purpose of this study was to determine whether MDR1 SNPs were associated with the mortality in paraquat intoxicated patients. We recruited 109 patients admitted with acute paraquat poisoning. They were genotyped for C1236T, G2677T/A, and C3435T single-nucleotide polymorphisms (SNPs) of MDR1 gene. Their effects on mortality of paraquat intoxicated patients were evaluated. Overall mortality rate was 66.1%. Regarding the C1236T of the MDR1 gene polymorphism, 21 (19.3%) had the wild type MDR1 while 88 (80.7%) had homozygous mutation. Regarding the C3435T MDR1 gene polymorphism, 37(33.9%) patients had the wild type, 23 (21.1%) had heterozygous mutation, and 49 (45.0%) had homozygous mutation. Regarding the G2677T/A MDR1 gene polymorphism, 38 (34.9%) patients had the wild type, 57 (52.3%) had heterozygous mutation, and 14 (12.8%) had homozygous mutation. None of the individual mutations or combination of mutations (two or three) of MDR1 SNP genotypes altered the morality rate. The mortality rate was not significantly different among SNP groups of patients with <4.0 μg/mL paraquat. In conclusion, MDR1 SNPs have no effect on the mortality rate of paraquat intoxicated patients.

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Multi-drug resistance-1 gene polymorphisms in nephrotic syndrome: Impact on susceptibility and response to steroids

Cited by 31 publications

References 40 publications

A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome

A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome

IDENTIFICATION OF FUNCTIONAL SNPs OF MDR1 GENE AMONG NEPHROTIC SYNDROME CHILDREN IN SOUTH INDIA

Effect of MDR1 gene polymorphisms on mortality in paraquat intoxicated patients

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