rs1045642, ABCB1

N. diseases: 214
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE The G2677T T and C3435T T alleles as well as the TT, CTT and TTT haplotypes seemed to be significantly associated with drug-resistance epilepsy in our population. 29198163 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE These results suggested that ABCB1 rs1045642 and UGT2B7 rs7439366 may affect OXC pharmacokinetics and therapeutic efficacy in Han Chinese patients with epilepsy. 28837897 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE C3435T polymorphism of MDR1 gene was analysed by the high resolution melting technique in a group of patients with drug-resistant (n = 106) and drug-responsive epilepsy (n = 67), as well as in non-epileptic children (n = 98) hospitalised at the Department of Neurology, Polish Mother's Memorial Hospital in Lodz. 27391700 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE We aimed to explore the possible influence of CYP2C9 (*2, *3 and IVS8-109 A>T), CYP2C19 (*2, *3 and *17) and ABCB1 (1236C>T, 2677G>A/T and 3435C>T) on phenytoin (PHT) plasma concentrations in 64 Mexican Mestizo (MM) patients with epilepsy currently treated with PHT in mono- (n=25) and polytherapy (n=39). 26122019 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE We conclude that the ABCB1 C3435T polymorphism may be a genetic marker for drug resistance in epilepsy in Caucasian populations. 25799371 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE These findings rule out the MDR1 c.3435C>T polymorphism having a major role or increasing the risk of drug-resistance suggesting a revision is required to determine the contribution of this polymorphism in predicting drug response in epilepsy. 25458099 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE The ABCB1 3435C>T polymorphism and type of epilepsy were associated with response to PB. 25846690 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE The aim of this study was to evaluate the effect of C3435T and G2677T/A polymorphisms of MDR1 on AED resistance in Turkish children with epilepsy. 24213830 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE We suggest that the influence of the C3435T polymorphism in predicting the drug-resistance in epilepsy, might be significant and further investigations focusing on carbamazepine and phenytoin, in various ethnic populations are necessary to clarify the effect of C3435T polymorphism on the multidrug resistance in epilepsy patients. 24300029 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE All the case-control association researches evaluating the role of MDR1 C3435T polymorphism in childhood epilepsy to antiepileptic drugs were identified. 24553780 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation 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
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation 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
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE A meta-analysis was conducted to assess the role of the C3435T polymorphism in drug-resistance in epilepsy. 24794827 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE The study failed to corroborate association between polymorphism CYP3A5*3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy. 23984379 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation 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
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation 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
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE In this study, we analyzed whether the three single nucleotide polymorphisms (C1236T, G2677T/A, and C3435T) in the ABCB1 gene were associated with pharmacoresistant epilepsy in a western Chinese pediatric population. 21420937 2011
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE No association was found between ABCB1 C3435T polymorphisms and the risk of having epilepsy (odds ratio 1.07, 95% confidence interval 0.76-1.51; p = 0.34). 20491876 2010
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation 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
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls. 20448249 2010
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE Studies on epilepsy have focused on the C3435T polymorphism of the ABCB1 gene, but other ABC transporters are also thought to be involved in the transport of antiepileptic drugs. 19167193 2009
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation 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
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE Our aim was to investigate the effect of the 1236C>T(rs1128503), 2677G>T/A(rs2032582), and 3435C>T(rs1045642) single-nucleotide polymorphisms of ABCB1 (or MDR1) on drug resistance in north Indian patients with epilepsy. 18812236 2009
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE Multidrug resistance in patients undergoing resective epilepsy surgery is not associated with C3435T polymorphism in the ABCB1 (MDR1) gene. 18436433 2008
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation 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