ArticleCNS neuroscience & therapeutics2012
ABCC2 polymorphisms and haplotype are associated with drug resistance in Chinese epileptic patients.
Article in CNS neuroscience & therapeutics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 4 of them syntheses that pooled it.
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Who cites it
41 citing papers in PubMed, 4 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- A Systematic Review of ABCB1 Polymorphisms and Antiseizure Medication Resistance: Insights from Effect Size and Study Power Analysis.International journal of molecular sciences · 2025Pooled it
- Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis.BMC neurology · 2017Pooled it
- Pooled it
- The effects of ABCC2 G1249A polymorphism on the risk of resistance to antiepileptic drugs: a meta-analysis of the literature.Genetic testing and molecular biomarkers · 2014Pooled it
- Article
- The Role of Candidate Polymorphisms in Drug Transporter Genes on High-Dose Methotrexate in the Consolidation Phase of the AIEOP-BFM ALL 2009 Protocol.Clinical and translational science · 2025Article
- A case report of seizure worsening after perampanel add-on to oxcarbazepine: possible role of metabolic interaction and pharmacogenetics.Frontiers in psychiatry · 2025Article
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- Placental efflux transporters and antiseizure or antidepressant medication use impact birth weight in MoBa cohort.iScience · 2024Article
- Integrative analysis of rs717620 polymorphism in therapeutic response to anti-seizure medications.Heliyon · 2024Article
- Analysis of influencing factors on monohydroxylated derivative of oxcarbazepine plasma concentration in children with epilepsy.European journal of clinical pharmacology · 2022Article
- The role of efflux transporters and metabolizing enzymes in brain and peripheral organs to explain drug-resistant epilepsy.Epilepsia open · 2022Review
- PharmGKB summary: lamotrigine pathway, pharmacokinetics and pharmacodynamics.Pharmacogenetics and genomics · 2020Review
- Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters.Pharmacogenomics · 2020Article
- Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia.International journal of molecular sciences · 2020Review
- Genetic variations associated with pharmacoresistant epilepsy (Review).Molecular medicine reports · 2020Review
- Lack of Association of Generic Brittle Status with Genetics and Physiologic Measures in Patients with Epilepsy.Pharmaceutical research · 2020Article
- Effects of AQP4 and KCNJ10 Gene Polymorphisms on Drug Resistance and Seizure Susceptibility in Chinese Han Patients with Focal Epilepsy.Neuropsychiatric disease and treatment · 2020Article
- Lack of association between valproic acid response and polymorphisms of its metabolism, transport, and receptor genes in children with focal seizures.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsSome study found that ATP-binding cassette (ABC) efflux transporters play an important role in antiepileptic drug resistance, especially ABCB1 and ABCC2. The aims of this study were to evaluate the relationship between the genetic polymorphisms of ABCC2 and ABCB1 and the therapeutic efficacy of antiepileptic drugs (AEDs) in Chinese epileptic patients.
methodsABCB1 rs1045642 (3435C>T) and ABCC2 rs717620 (-24C>T), rs3740066 (3972C>T), and rs2273697 (1249G>A) polymorphisms loci in 537 Chinese epilepsy patients (217 drug resistant patients and 320 drug responders) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
resultsABCC2 rs717620 -24TT genotype was significantly associated with drug resistant epilepsy (odds ratio [OR]= 4.06 [1.79-9.20], P= 0.001). The OR values of ABCC2 rs717620 -24 CT+TT genotypes and ABCC2 rs3740066 (3972C>T) CT+TT genotypes were markedly higher in drug resistant patients (OR = 1.57 [1.08-2.29], P= 0.018; OR = 1.49 [1.02-2.18], P= 0.038, respectively) compared with responsive patients. ABCC2 rs2273697 (1249G>A) and ABCB1 rs1045642 (3435C>T) polymorphisms were not associated with drug resistant epilepsy. Linkage disequilibrium (LD) test showed that the ABCC2 rs717620 were in strong LD with rs2273697 (D'= 0.694) and rs3740066 (D'= 0.699). The frequencies of haplotypes TGT (ABCC2 -24C>T/ABCC2 1249G>A/ABCC2 3972C>T) in resistant patients was significantly higher than those in responsive patients (21.0% vs. 14.2%, P < 0.05).
conclusionABCC2-24C>T, 3972C>T polymorphisms and one ABCC2 haplotype is associated with AED resistance; ABCC2 1249G>A and ABCB1 3435C>T polymorphisms are not associated with AED resistance in our study. These data suggest that ABCC2 polymorphisms and haplotype may affect the response of antiepileptic drugs.
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