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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.
Smolarz, Beata; Skalski, Dominik; Rysz, Andrzej; Marchel, Andrzej; Romanowicz, Hanna; Makowska, Marianna.
Afiliación
  • Smolarz B; Laboratory of Cancer Genetics, Department of Clinical Pathomorphology, Polish Mother's Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland. smolbea@wp.pl.
  • Skalski D; Department of Neurology, Regional Hospital Dr. Charles Jonscher, Lodz, Poland.
  • Rysz A; Department of Neurological Surgery, Medical University, Warsaw, Poland.
  • Marchel A; Department of Neurological Surgery, Medical University, Warsaw, Poland.
  • Romanowicz H; Laboratory of Cancer Genetics, Department of Clinical Pathomorphology, Polish Mother's Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland.
  • Makowska M; Department of Neurology, Charite Universitatsmedizin Berlin, Berlin, Germany.
Acta Neurol Belg ; 117(4): 849-855, 2017 Dec.
Article en En | MEDLINE | ID: mdl-28608314
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Resistencia a Múltiples Medicamentos / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Epilepsia Refractaria Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Acta Neurol Belg Año: 2017 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Resistencia a Múltiples Medicamentos / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Epilepsia Refractaria Tipo de estudio: Etiology_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Acta Neurol Belg Año: 2017 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Italia