ArticleThe pharmacogenomics journal2013
Functional characterization of ABCC2 promoter polymorphisms and allele-specific expression.
Article in The pharmacogenomics journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 37 citations in OpenAlex.
- Genetic Variants Associated With Response to Platinum-Based Chemotherapy in Non-Small Cell Lung Cancer Patients: A Field Synopsis and Meta-Analysis.British journal of biomedical science · 2024Pooled it
- Genetic polymorphisms influencing deferasirox pharmacokinetics, efficacy, and adverse drug reactions: a systematic review and meta-analysis.Frontiers in pharmacology · 2023Pooled it
- Sex-Related Differences in Impact on Safety of Pharmacogenetic Profile for Colon Cancer Patients Treated with FOLFOX-4 or XELOX Adjuvant Chemotherapy.Scientific reports · 2019Trial
- Allele-specific expression of mutated in colorectal cancer (MCC) gene and alternative susceptibility to colorectal cancer in schizophrenia.Scientific reports · 2016Trial
- Systematic review on genetic polymorphisms associated with idiosyncratic drug-induced liver injury (iDILI): iDILInet as an interactive visualization tool.Acta pharmaceutica Sinica. B · 2026Article
- Pharmacogenetics of Mycophenolic Acid in Patients of African Descent: Underrepresentation of African Data.Clinical and translational science · 2026Review
- Relationship between susceptibility to neurodegenerative diseases and genetic factors in populations exposed to mercury in Medellín, ColombiaBiomedica : revista del Instituto Nacional de Salud · 2026Article
- Risk Assessment for Drug-Induced Hyperbilirubinemia: A Mechanistic Approach.CPT: pharmacometrics & systems pharmacology · 2026Article
- 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
- Genetic polymorphisms as potential pharmacogenetic biomarkers for platinum-based chemotherapy in non-small cell lung cancer.Molecular biology reports · 2024Review
- Article
- Elevation of alkaline phosphatase and long-term drug therapy for cystic fibrosis.European journal of clinical pharmacology · 2022Article
- Racial Disparity in Drug Disposition in the Digestive Tract.International journal of molecular sciences · 2021Review
- Recent advances in lab-on-a-chip technologies for viral diagnosis.Biosensors & bioelectronics · 2020Review
- Pharmacogenetics of Statin-Induced Myotoxicity.Frontiers in genetics · 2020Review
- Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.European journal of human genetics : EJHG · 2019Article
- Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.Cancer drug resistance (Alhambra, Calif.) · 2019Review
- In Vitro Assessment of the Effect of Antiepileptic Drugs on Expression and Function of ABC Transporters and Their Interactions with ABCC2.Molecules (Basel, Switzerland) · 2017Article
- Exploring the Carbamazepine Interaction with Human Pregnane X Receptor and Effect on ABCC2 Using in Vitro and in Silico Approach.Pharmaceutical research · 2017Article
- Clinical validity of new genetic biomarkers of irinotecan neutropenia: an independent replication study.The pharmacogenomics journal · 2016Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Multidrug resistance protein 2 (MRP2, ABCC2) is an efflux membrane transporter highly expressed in liver, kidney and intestine with important physiological and pharmacological roles. The goal of this study was to investigate the functional significance of promoter region polymorphisms in ABCC2 and potential allele-specific expression. Twelve polymorphisms in the 1.6 kb region upstream of the translation start site were identified by resequencing 247 DNA samples from ethnically diverse individuals. Luciferase reporter gene assays showed that ABCC2 -24C>T both alone and as part of a common haplotype (-24C>T/-1019A>G/-1549G>A) increased promoter function 35% compared with the reference sequence (P<0.0001). No other common variants or haplotypes affected ABCC2 promoter activity. Allele-specific expression was also investigated as a mechanism to explain reported associations of the synonymous ABCC2 3972C>T variant with pharmacokinetic phenotypes. In Caucasian liver samples (n=41) heterozygous for the 3972C>T polymorphism, the 3972C allele was preferentially transcribed relative to the 3972T allele (P<0.0001). This allelic imbalance was particularly apparent in samples with haplotypes containing two or three promoter/untranslated region variants (-1549G>A, -1019A>G and -24C>T). The observed allelic imbalance was not associated with hepatic or renal ABCC2 mRNA expression. Additional mechanisms will need to be explored to account for the interindividual variation in ABCC2 expression and MRP2 function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.