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 CTD_human In epileptic brain specimens with high MDR1 mRNA levels, expression of P-glycoprotein in astrocytes also was identified. 8001500 1995
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE ABCB1 3435 was genotyped in 315 patients with epilepsy, classified as drug-resistant in 200 and drug-responsive in 115, and 200 control subjects without epilepsy. 12686700 2003
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease LHGDN As compared with patients with drug-responsive epilepsy, patients with drug-resistant epilepsy were more likely to have the CC genotype at ABCB1 3435 than the TT genotype (odds ratio, 2.66; 95 percent confidence interval, 1.32 to 5.38; P=0.006). 12686700 2003
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE It has therefore been proposed that MDR1/PgP may contribute to multiple drug resistance in epilepsy. 12699350 2003
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 AlteredExpression disease LHGDN Multidrug resistance proteins in tuberous sclerosis and refractory epilepsy. 14984901 2004
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Conflicting reports suggest a possible association between variants of the MDR1 gene and medical intractability in epilepsy. 15679503 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE Selective inhibitors of the major efflux transporter P-glycoprotein are currently in clinical trials for reversing chemotherapy resistance in oncology and may soon be used to determine whether such inhibitors can prevent or reverse drug resistance in epilepsy. 16120487 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 AlteredExpression disease BEFREE Recent evidence suggests that the homozygous C-variant, which is associated with higher expression and increased activity of P-gp, is more common in patients with pharmacoresistant epilepsy. 15857428 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE We aimed to determine the effect of the ABCB1 gene on epilepsy drug response, using a unique large cohort of epilepsy patients with prospectively measured seizure and drug response outcomes. 16857572 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Lack of association between C3435T nucleotide MDR1 genetic polymorphism and multidrug-resistant epilepsy. 16542858 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Three SNPs at nucleotide position 1236 in exon 12, 2677 in exon 21 and 3435 in exon 26 of the MDR1 gene were genotyped in 207 Korean epileptics. 16386926 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE ABCB1 polymorphisms influence the response to antiepileptic drugs in Japanese epilepsy patients. 16753003 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease LHGDN Further analysis using a logistic regression model revealed that only 2677G>T and 3435C>T in the ABCB1 gene and their interaction term were associated with drug-resistant epilepsy after adjustment for etiology and epilepsy classification. 17924830 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Previous attempts to correlate the ABCB1 C3435T SNP, or a three-SNP haplotype containing C3435T with epilepsy pharmacoresistance have produced discordant findings. 17460550 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE Lessons learnt from the ABCB1 studies can help guide future association genetics studies, both for multidrug resistance in epilepsy, and for other epilepsy phenotypes. 17661727 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE ABCB1 3435C>T was genotyped in 746 Han Chinese patients with epilepsy and 179 controls. 17521963 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Further analysis using a logistic regression model revealed that only 2677G>T and 3435C>T in the ABCB1 gene and their interaction term were associated with drug-resistant epilepsy after adjustment for etiology and epilepsy classification. 17924830 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease LHGDN ABCB1 3435C>T was genotyped in 746 Han Chinese patients with epilepsy and 179 controls. 17521963 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease LHGDN Our study did not support any significant association between the MDR1 (C3435T) polymorphism and resistance to CBZ in epilepsy patients from Turkey. 17917461 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Since P-glycoproteins control the extrusion of a broad range of toxins and xenobiotics and are responsible for drug resistance in many diseases including cancer and brain diseases such as epilepsy, we propose that the failure of NDGA in maintaining glutamate uptake upregulated in SOD1-G93A mice and its therapeutic inefficacy are due to acquired pharmacoresistance mediated by the increased expression of P-glycoprotein. 18625223 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE P-glycoprotein (Pgp), a transmembrane transporter encoded by ABCB1 gene and located at the endothelial cells of the blood-brain barrier (BBB), has been associated with epilepsy pharmacoresistance. 18329296 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Multidrug resistance in patients undergoing resective epilepsy surgery is not associated with C3435T polymorphism in the ABCB1 (MDR1) gene. 18436433 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Our study did not support any significant association between the MDR1 (C3435T) polymorphism and resistance to CBZ in epilepsy patients from Turkey. 17917461 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE We included all published studies until September 2007, in which patients with responsive and unresponsive seizure disorders underwent genotyping for ABCB1 C3435T. 19178561 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Multidrug-resistant genotype (ABCB1) and seizure recurrence in newly treated epilepsy: data from international pharmacogenetic cohorts. 19453704 2009