Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.060 | GeneticVariation | BEFREE | ABCC2 rs2273697 is associated with valproic acid concentrations in patients with epilepsy on valproic acid monotherapy. | 29724294 | 2018 |
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0.060 | GeneticVariation | BEFREE | In this case-control study, we have investigated the role of ABCB1 rs1045642 and rs2032582 and ABCC2 rs2273697 and rs717620 single nucleotide polymorphisms in antiepileptic drug-resistance in patients with epilepsy. | 27886333 | 2016 |
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0.060 | GeneticVariation | BEFREE | However, significant association was found in recessive model for G1249A polymorphism (GG vs. GA+AA: OR=0.72, 95%CI=0.53-0.96, P=0.03), indicating the recessive model of G1249A in MRP2/ABCC2 might decrease the risk of drug resistance in Asian epilepsy. | 25847339 | 2015 |
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0.060 | GeneticVariation | BEFREE | Although numerous studies have investigated the association between the G1249A variant and the risk of drug resistance in epilepsy, the results of these studies have been inconclusive. | 24325761 | 2014 |
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0.060 | GeneticVariation | BEFREE | Significant allele association of rs2273697 was observed in Chinese females with epilepsy, Malaysian Chinese patients with generalized seizure and Japanese patients with partial seizure for the AA versus GG genotype model and Malaysian Chinese patients with generalized seizure for the GA versus GG and autosomal dominant models. | 24624913 | 2014 |
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0.060 | GeneticVariation | BEFREE | The SCN1A IVS5-91G>A AA genotype and the ABCC2 c.1249G>A GA genotype were significantly associated with carbamazepine/oxcarbamazepine (CBZ/OXC)-resistant epilepsy (p =0.002 and p = 0.036, respectively). | 25155934 | 2014 |
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0.010 | GeneticVariation | BEFREE | Thus, our study suggests that the ABCC2 rs717620 polymorphism is associated with resistance to antiepileptic drugs in Chinese patients with epilepsy. | 27886333 | 2016 |
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0.010 | GeneticVariation | BEFREE | The rs2273697 and rs3740066 polymorphisms were genotyped in 2056 Malaysian (55%), Hong Kong (32%) and Japanese (13%) epilepsy patients. | 24624913 | 2014 |