|(A;A)||1||Adverse reaction more likely to carbamazepine in epileptic patients|
|(A;G)||1||Adverse reaction more likely to carbamazepine in epileptic patients|
From an initial case-control study of 146 patients with epilepsy, followed by replication (p=0.001) in another 279 patients, the rs2273697(A) allele was associated with neurological adverse drug reactions from taking carbamazepine. Functional studies showed that this SNP selectively reduced carbamazepine transport across the cell membrane.[PMID 20216337]
[PMID 22630058] ABCC2 Polymorphisms and Haplotype are Associated with Drug Resistance in Chinese Epileptic Patients
[PMID 16385451] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 18176959] Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.
[PMID 18395921] Role of ABCC2 common variants in intrahepatic cholestasis of pregnancy.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18817904] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.
[PMID 19568750] MRP2 and GSTP1 polymorphisms and chemotherapy response in advanced non-small cell lung cancer.
[PMID 22112610] Common variants in ABCB1, ABCC2 and ABCG2 genes and clinical outcomes among women with advanced stage ovarian cancer treated with platinum and taxane-based chemotherapy: a Gynecologic Oncology Group study.
[PMID 22318656] Interindividual variability in hepatic expression of the multidrug resistance-associated protein 2 (MRP2/ABCC2): quantification by liquid chromatography/tandem mass spectrometry.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
|summary||Associated with increased activity of the intestinal efflux transporter ABCC2, evidenced by gene-dose related decrease of oral absorption and increased residual clearance of talinolol.|
[PMID 23506516] A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy
[PMID 23069858] Impact of ABCC2 polymorphisms on high-dose methotrexate pharmacokinetics in patients with lymphoid malignancy.
[PMID 23896815] Influence of ATP-binding cassette polymorphisms on neurological outcome after traumatic brain injury
[PMID 26189305] ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population
[PMID 26807589] A Single-Nucleotide Polymorphism in ABCC4 Is Associated with Tenofovir-Related Beta2-Microglobulinuria in Thai Patients with HIV-1 Infection.
|Disease||not specified Dubin-Johnson syndrome|
|CLNDBN||not specified Dubin-Johnson syndrome|