Polymorphism of the multidrug resistance 1 gene MDR1 G2677T/A (rs2032582) and the risk of drug-resistant epilepsy in the Polish adult population
| Autor: | Andrzej Marchel, Andrzej Rysz, Marianna Makowska, Hanna Romanowicz, Beata Smolarz, Dominik Skalski |
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| Rok vydání: | 2017 |
| Předmět: |
Oncology
Adult Male medicine.medical_specialty Drug Resistant Epilepsy ATP Binding Cassette Transporter Subfamily B Genotype urologic and male genital diseases Polymorphism Single Nucleotide 03 medical and health sciences Epilepsy Young Adult 0302 clinical medicine Gene Frequency Internal medicine Genetic variation medicine SNP Humans Genetic Predisposition to Disease Allele Alleles Genetics business.industry General Medicine Odds ratio medicine.disease Confidence interval Drug Resistance Multiple 030220 oncology & carcinogenesis Female Neurology (clinical) Poland business 030217 neurology & neurosurgery Polymorphism Restriction Fragment Length |
| Zdroj: | Acta neurologica Belgica. 117(4) |
| ISSN: | 2240-2993 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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