ABCB1 gene polymorphisms is not associated with drug-resistant epilepsy in Romanian children

Butilă, Anamaria Todoran; Sin, Anca; Szabo, Elisabeta Racoş; Micheu, C.; Moldovan, Valeriu; Voidăzan, Septimiu; Bănescu, Claudia

doi:10.1515/rrlm-2015-0037

Cited by 5 publications

(5 citation statements)

References 40 publications

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“…In the present, study we did not investigate this polymorphism. In Butila study e TT genotype in position 2677 was more frequently observed in drug-responsive cases (32), which is different from the present data.…”

Section: Discussioncontrasting

confidence: 99%

“…These differences between studies occurred probably due to a different number of patients included in the studies, the different ethnic populations, and the definition criteria of refractory epilepsy. A previous study performed in a Romanian population had showed an association between TT and CT genotypes in 1236 position with drug-responsive forms in children with idiopathic epilepsy (32). In the present, study we did not investigate this polymorphism.…”

Section: Discussionmentioning

confidence: 63%

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Correlation between ABCB1 gene polymorphisms, antiepileptic drug concentrations and treatment response

Sabin

Bocşan

Major

et al. 2018

Revista Romana De Medicina De Laborator

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Aim: A possible molecular mechanism of clinically defined multidrug-resistant epilepsy involves drug efflux transporters such as P glycoprotein (P-gp), a member of the ATP-binding cassette subfamily B1 (ABCB1). We have investigated the prevalence of the C3435T, G 2677T/A, and T129C single-nucleotide polymorphisms in the promoter region of MDR1 gene, in Romanian epileptic patients. Methods: 70 epileptic patients evaluated in the Neurology Department of Cluj County Hospital were included in the study. The response to treatment was assessed by reviewing the seizure diaries and the patients were classified as responders or non-responders. Antiepileptic drug (AED) plasmatic concentrations were measured and the patients were divided into 2 groups: first group with AED concentrations in therapeutic range and the second one with sub-optimal AED concentrations. Genotyping the DNA samples, we investigated MDR1 gene polymorphism by polymerase chain reaction (PCR). Results were expressed as genotype and allele frequencies per response group and compared between subgroups. Results: 33 patients (47.14%) were classified as responders, while the remaining 37 patients (52.86%) were classified as non-responders. A comparison of responders and non-responders revealed no significant difference in genotype frequency for any of the three mutations studied. The CT heterozygote for ABCB1 T129C had significantly lower AED concentrations (p=0.041), with no significant difference for the other polymorphisms studied. Conclusions: In our study we found an association of CT variant in ABCB1 C129T with lower AED plasmatic concentrations and no association between ABCB1 variants and the drug responsiveness.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 63%

Correlation between ABCB1 gene polymorphisms, antiepileptic drug concentrations and treatment response

Sabin

Bocşan

Major

et al. 2018

Revista Romana De Medicina De Laborator

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“…Consistent with the results of the present study, a Korean study previously reported a non-significant association between the SNPs C3435T, G2677T and T1236C in the MDR1 gene and drug resistance among Korean patients with epilepsy (29). A previous study conducted on Romanian pediatric patients indicated that the T1236C and G2677T polymorphisms of the MDR1 gene were not associated with drug resistance in patients with epilepsy (30). However, the genotypes T1236T, T1236C and T2677T were found to be associated with drug-responsive idiopathic epilepsy (30).…”

Section: Discussionsupporting

confidence: 91%

“…A previous study conducted on Romanian pediatric patients indicated that the T1236C and G2677T polymorphisms of the MDR1 gene were not associated with drug resistance in patients with epilepsy (30). However, the genotypes T1236T, T1236C and T2677T were found to be associated with drug-responsive idiopathic epilepsy (30). Furthermore, another previous study concluded that the T1236C polymorphism in the MDR1 gene was significantly associated with a little to no response to therapy in patients with breast cancer in an Arab population of Saudi Arabia (31).…”

Section: Discussionmentioning

confidence: 94%

Association between <em>MDR1</em> polymorphisms and XELIRI and XELOX chemoresistance in Saudi patients with colorectal cancer

et al. 2020

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Multidrug resistance member 1 (MDR1) is located on chromosome 7 and encodes P-glycoprotein, which is universally accepted as a drug resistance biomarker. MDR1 polymorphisms can alter protein expression or function, which has been previously reported to associate with various types of malignancies, such as colorectal cancer (CRC). Therefore, the present study aimed to determine the effects of MDR1 polymorphisms on drug responses of Saudi patients with CRC. DNA samples were obtained from 62 patients with CRC and 100 healthy controls. Genotypes and allele frequencies of MDR1 single nucleotide polymorphisms (SNPs) G2677T and T1236C were determined using the PCR-restriction fragment length polymorphism procedure. The results showed no significant differences in the genotype distribution and allele frequency of T1236C between patients with CRC and controls. However, G2677T was found to serve a highly significant role in protecting against the progression of CRC. In addition, none of the genotypes in SNPs T1236C and G2677T was found to affect chemoresistance to XELIRI and XELOX. In conclusion, although T1236C in the MDR1 gene is not associated with CRC risk, G2677T protects against the development of CRC. Neither of the MDR1 SNPs tested were associated with the risk of chemoresistance. Therefore, these two SNPs cannot be used as molecular markers for predicting drug response in patients with CRC.

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“…The genotypes of the investigated MDR1 gene, namely C1236T, G2677T and C3435T gene polymorphisms were established by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis as previously described by Dong et al and corresponding FastDigest restriction enzyme (namely FastDigest EcoO109I, FastDigest BshNI, FastDigest MboI) supplied by Ther-moFisher Scientific. The PCR conditions were similar to those reported previously (26,27)…”

Section: Genotypingmentioning

confidence: 73%

Association between MDR1 gene polymorphism and clinical course of pediatric pulmonary arterial hypertension

Muntean

Şuteu

Togănel

et al. 2018

Revista Romana De Medicina De Laborator

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Pulmonary arterial hypertension (PAH) is a progressive disease with a complex pathogenesis. The polymorphism of the gene of multidrug resistance-1 (MDR1) has been associated with many diseases including PAH. Objective. In this study we aimed to investigate the relevance of the MDR1 polymorphism to pediatric PAH clinical course. Methods. A total of 40 pediatric patients with PAH (secondary to congenital heart defects or idiopathic) and 40 control subjects were enrolled. Patients with PAH were divided into 2 groups, according to their evolution: 28 patients who remained clinically stable at 12-months (non-worsening group) and 12 patients who presented clinical worsening at 12-months (worsening group). Genomic DNA was genotyped for MDR1 gene polymorphisms as follows: C1236T, G2677T and C3435T. Results. There were no significant differences between PAH children groups (clinical worsening and non-worsening) nor between PAH children and controls in terms of frequency distribution of the three studied genotypes or alleles. Conclusions. The MDR1 polymorphism could not be correlated with the clinical evolution of pediatric PAH patients in our study.

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ABCB1 gene polymorphisms is not associated with drug-resistant epilepsy in Romanian children

Abstract: Background: P-glycoprotein (P-gp)

Cited by 5 publications

References 40 publications

Correlation between ABCB1 gene polymorphisms, antiepileptic drug concentrations and treatment response

Correlation between ABCB1 gene polymorphisms, antiepileptic drug concentrations and treatment response

Association between <em>MDR1</em> polymorphisms and XELIRI and XELOX chemoresistance in Saudi patients with colorectal cancer

Association between MDR1 gene polymorphism and clinical course of pediatric pulmonary arterial hypertension

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