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 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 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 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 The ABCB1 T-129C, C1236T, G2677T/A and C3435T polymorphisms were genotyped in 210 Japanese epileptics who had been prescribed AEDs, including CBZ, for longer than 2 years. 16753003 2006
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE Whether the C3435T polymorphism can act as a marker for the natural history of treated epilepsy remains to be determined. 15857428 2005
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE One hundred and eight patients with drug-responsive epilepsy, 63 patients with drug-resistant epilepsy, and 219 control migraine subjects were studied, but the analysis for C3435T allele showed no significant association between the CC genotype and the multidrug-resistant epilepsy. 16542858 2006
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.100 GeneticVariation BEFREE These findings suggest that C3435T is unlikely to be a marker for epilepsy multidrug resistance. 17460550 2007
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 For a single gene test, it was demonstrated that 3435C>T in the ABCB1 gene had a significant effect on epilepsy treatment responses, but polymorphisms in the NR1I2 gene did not. 17924830 2007
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 Our study did not support any significant association between the MDR1 (C3435T) polymorphism and resistance to CBZ in epilepsy patients from Turkey. 17917461 2008
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 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 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 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 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 ABCB1 3435C>T was genotyped in 746 Han Chinese patients with epilepsy and 179 controls. 17521963 2007
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 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 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 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 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