Lack of association between ABCC2 gene variants and treatment response in epilepsy

Pharmacogenomics

Volumn 13, Issue 2, 2012, Pages 185-190

  Zimprich, Fritz ^a   Hilger, Eva ^a   Reinthaler, Eva Maria ^a   Stogmann, Elisabeth ^a   Hotzy, Christoph ^a   Pataraia, Ekaterina ^a   Baumgartner, Christoph ^b   Zimprich, Alexander ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY OF VIENNA   (Austria)

Author keywords

ABCC2; drug resistance; epilepsy; multidrug resistance associated proteins; pharmacogenetics

Indexed keywords

CARBAMAZEPINE; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; PRIMIDONE; VALPROIC ACID;

ABCC2 GENE; ADULT; ALLELE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DRUG RESPONSE; DRUG SENSITIVITY; EPILEPSY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MARKER GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALLELES; BIOMARKERS, PHARMACOLOGICAL; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEIZURES;

EID: 84855965754     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.11.143     Document Type: Article

References (16)

1. Cascorbi I. ABC transporters in drug-refractory epilepsy: limited clinical significance of pharmacogenetics? Clin. Pharmacol. Ther. 87, 15-18 (2010).
2. Loscher W, Klotz U, Zimprich F, Schmidt D. The clinical impact of pharmacogenetics on the treatment of epilepsy. Epilepsia 50, 1-23 (2009).
3. Ufer M, Mosyagin I, Muhle H et al. Non-response to antiepileptic pharmacotherapy is associated with the ABCC2-24C>T polymorphism in young and adult patients with epilepsy. Pharmacogenet. Genomics 19, 353-362 (2009).
4. Ufer M, von Stülpnagel C, Muhle H et al. Impact of ABCC2 genotype on antiepileptic drug response in Caucasian patients with childhood epilepsy. Pharmacogenet. Genomics 21(10), 624-630 (2011).
5. Kim DW, Lee SK, Chu K et al. Lack of association between ABCB1, ABCG2, and ABCC2 genetic polymorphisms and multidrug resistance in partial epilepsy. Epilepsy Res. 84, 86-90 (2009).
6. Seo T, Ishitsu T, Oniki K, Abe T, Shuto T, Nakagawa K. ABCC2 haplotype is not associated with drug-resistant epilepsy. J. Pharm. Pharmacol. 60, 631-635 (2008). (Pubitemid 351589051)
7. Kwan P, Wong V, Ng PW et al. Gene-wide tagging study of the association between ABCC2, ABCC5 and ABCG2 genetic polymorphisms and multidrug resistance in epilepsy. Pharmacogenomics 12(3), 319-325 (2011).
8. Kim WJ, Lee JH, Yi J et al. A nonsynonymous variation in MRP2/ABCC2 is associated with neurological adverse drug reactions of carbamazepine in patients with epilepsy. Pharmacogenet. Genomics 20, 249-256 (2010).
9. Kwan P, Arzimanoglou A, Berg AT et al. Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia 51(6), 1069-1077 (2010).
10. Purcell S, Neale B, Todd-Brown K et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007). (Pubitemid 47330214)
11. Purcell S, Cherny SS, Sham PC. Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19(1), 149-150 (2003). (Pubitemid 36150192)
12. Nelis M, Esko T, Magi R et al. Genetic structure of Europeans: a view from the North-East. PLoS ONE 4, e5472 (2009).
13. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. Rare variants create synthetic genome-wide associations. PLoS Biol. 8, e1000294 (2010).
14. Haenisch S, Zimmermann U, Dazert E et al. Influence of polymorphisms of ABCB1 and ABCC2 on mRNA and protein expression in normal and cancerous kidney cortex. Pharmacogenomics J. 7, 56-65 (2007). (Pubitemid 46322080)
15. Laechelt S, Turrini E, Ruehmkorf A, Siegmund W, Cascorbi I, Haenisch S. Impact of ABCC2 haplotypes on transcriptional and posttranscriptional gene regulation and function. Pharmacogenomics J. 11(1), 25-34 (2011).
16. Zhang Y, Zhao T, Li W, Vore M. The 5′;-untranslated region of multidrug resistance associated protein 2 (MRP2; ABCC2) regulates downstream open reading frame expression through translational regulation. Mol. Pharmacol. 77, 237-246 (2010).