Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE ATP-binding cassette sub-family B member 1 (ABCB1) is a membrane-associated protein that acts as an efflux transporter for many substrates, including chemotherapeutic agents, anti-epilepsy medicine, antibiotics and drugs for PD. 24572589 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Significance of MDR1 gene polymorphism C3435T in predicting drug response in epilepsy. 24300029 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE The analysis showed that there were significantly more cases with the MDR1 3435 CC genotype in the group with drug-resistant epilepsy than in the group with drug-responsive epilepsy [odds ratio (OR)=1.50, 95% confidence interval (CI)=1.09-2.06, P=0.01]. 24953225 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE However, a significant association was observed between ABCB1 (C3435T) rs1045642 and risk of having epilepsy (MTLE-HS and JME pooled cohort; genotypic p-value = 0.0002; allelic p-value = 0.004). 24586633 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Our study does not support any significant association between the MDR1 polymorphism and drug-resistant childhood epilepsy. 23465586 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE All the case-control association researches evaluating the role of MDR1 C3435T polymorphism in childhood epilepsy to antiepileptic drugs were identified. 24553780 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE To clarify the exact clinical implication of the MDR1 polymorphisms on the multidrug resistance in epilepsy, further investigations in various ethnic populations would be necessary. 24213830 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE The aim of our study was to investigate the relationship between C3435T polymorphism of the MDR1 gene and drug resistance in epilepsy with the consideration of 4 different criteria for qualification to groups sensitive and resistant to applied pharmacotherapy. 25223475 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE The study failed to corroborate association between polymorphism CYP3A5*3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy. 23984379 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 AlteredExpression disease BEFREE The P-gp encoded by the ABCB1 and ABCC2 genes are expressed in drug resistant patients with epilepsy. 23717663 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE In a further multivariate analysis, variants in SCN1A, CYP2C9, CYP2C19 and ABCB1 genes were significantly associated with CDRs of PHT under adjustment of age, gender and epilepsy classifications (adjusted r(2) = 20.07%). 22966884 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Association between lamotrigine concentrations and ABCB1 polymorphisms in patients with epilepsy. 22972536 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE We studied the association between C3435T and G2677T/A ABCB1 gene polymorphisms and drug resistance in Iranian epilepsy patients. 21636342 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Here, we performed the first haplotype meta-analysis to examine the association of haplotypes of ABCB1 common variants with the response to treatment in epilepsy. 21391884 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Genetic polymorphisms of the P-glycoprotein-encoding gene ABCB1 are suspected to be associated with pharmacoresistance phenotypes in epilepsy patients. 22033938 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 AlteredExpression disease BEFREE Our results suggest that ABCB1 3435-TT is associated with decreased plasma CBZ levels in Chinese patients with epilepsy. 21493161 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE The aim of this study was to assess the association of ABCB1 and PXR genetic polymorphisms with response to the carbamazepine (CBZ) or sodium valproate (VPA) monotherapy in epilepsy. 21316268 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Our findings suggest that the ABCB1 rs3789243 C>T, C1236T, G2677T/A, rs6949448 C>T, and C3435T haplotypes do not contribute to response to AED treatment in epilepsy. 21530324 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE No significant differences were observed in the frequencies of genotype, allele, haplotype, or diplotype of ABCB1 polymorphisms between patients with drug-resistant and drug-responsive epilepsy (p>0.05). 21420937 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Our data suggest that C1236T, G2677T/A, and C3435T polymorphisms in the ABCB1 gene do not contribute to the response to VPA in patients with epilepsy. 21388909 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE ABCB1 genotyping for epileptic patients is not warranted. 20491876 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE In conclusion, our finding disproves a general association between ABCB1 polymorphisms and drug response in epilepsy patients. 20417680 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Furthermore, patients with symptomatic epilepsies with the ABCB1_3435CT or TT genotypes had a lower risk of drug-resistance than those with the CC genotype. 20064729 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 AlteredExpression disease BEFREE In addition to Pgp, increased expression of several multidrug resistance-associated proteins (MRPs) has been determined in epileptogenic brain regions of patients with pharmacoresistant epilepsy. 20080116 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE We failed to show an association between the ABCB1 C3435T polymorphism and the risk of drug-resistance suggesting a revision in contribution of this polymorphism in the multi-drug transporters hypothesis of pharmacoresistance to AEDs in epilepsy. 20605481 2010