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Polymorphism of the multidrug resistance 1 gene MDR1 G2677T/A (rs2032582) and the risk of drug-resistant epilepsy in the Polish adult population

Abstract

The aim of this study was to analyse the frequency of genotypes and alleles of single-nucleotide polymorphism (SNP)-G2677T/A (rs2032582) of MDR1 gene and to investigate the significance this genetic variation exerts on drug-resistant epilepsy (DRE) in the Polish adult population. The study comprised 340 patients treated for DRE and 240 patients treated for drug-responsive epilepsy. Three hundred and sixty disease-free individuals were used as controls. Genomic DNA was isolated, and the SNP G2677T/A of MDR1 was determined by High-Resolution Melter technique. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated for each genotype and allele. In this paper, we have demonstrated that A allele of SNP G2677T/A of MDR1 may reduce the risk of DRE (OR 0.44; 95% CI 0.33–0.58, p < 0.0001), whereas allele G itself may be a risk factor for this disease. No differences were found in the distribution of the genotypes and alleles in the studied groups, depending on sex as well as on concomitant diseases (p > 0.05). G2677T/A polymorphism of MDR1 may play a significant role in the development of DRE in the Polish patients.

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Abbreviations

AEDs:

Antiepileptic drugs

ABC:

ATP-binding cassette

CI:

Confidence interval

DRE:

Drug-resistant epilepsy

HRM:

High-resolution melting

HWE:

Hardy–Weinberg equilibrium

MDR1:

Multidrug resistance protein 1

OR:

Odds ratio

SNP:

Single-nucleotide polymorphism

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Acknowledgements

Authors acknowledge the financial support provided by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland, to conduct the study.

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Authors and Affiliations

Authors

Contributions

MM, BS and HR conceived and designed the experiments. BS and HR performed the experiments—case group. MM, AM, AR and DS case group design and collect. BS and HR performed the experiments—control group. MM, BS and HR analysed data. BS contributed to reagents/materials/analysis tools. BS, HR and MM contributed to the writing of manuscript. All authors approved the final manuscript.

Corresponding author

Correspondence to Beata Smolarz.

Ethics declarations

Conflict of interest

Authors declare no conflict of interest. Author Beata Smolarz declares that she has no conflict of interest. Author Dominik Skalski declares that he has no conflict of interest. Author Andrzej Rysz declares that he has no conflict of interest. Author Andrzej Marchel declares that he has no conflict of interest. Author Hanna Romanowicz declares that she has no conflict of interest. Author Marianna Makowska declares that she has no conflict of interest.

Ethics approval

This work was supported by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland from the Statutory Development Fund. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

Informed consent

All the study participants gave a written informed consent. A formal consent was also issued by the Bioethical Committee of the Institute of the Polish Mother’s Memorial Hospital in Lodz (Approval number, 15.12.2010).

Consent for publication

Not applicable, the manuscript does not contain any individual person’s data.

Availability of data and material

Data will not be shared, because it is part of a clinical database.

Funding

This work was supported by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland from the Statutory Development Fund.

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Smolarz, B., Skalski, D., Rysz, A. et al. Polymorphism of the multidrug resistance 1 gene MDR1 G2677T/A (rs2032582) and the risk of drug-resistant epilepsy in the Polish adult population. Acta Neurol Belg 117, 849–855 (2017). https://doi.org/10.1007/s13760-017-0808-5

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  • DOI: https://doi.org/10.1007/s13760-017-0808-5

Keywords

  • Drug-resistant epilepsy
  • MDR1
  • Polymorphism