Association between lamotrigine concentrations and ABCB1 polymorphisms in patients with epilepsy

Therapeutic Drug Monitoring

Volumn 34, Issue 5, 2012, Pages 518-525

  Lovrić, Mila ^a   Božina, Nada ^a   Hajnšek, Sanja ^a   Kuzman, Martina Rojnić ^a   Sporiš, Davor ^b   Lalić, Zdenka ^a   Božina, Tamara ^c   Granić, Paula ^a  

^a KBC Zagreb   (Croatia)

^b University Hospital   (Croatia)

^c UNIVERSITY OF ZAGREB   (Croatia)

Author keywords

ABCB1; antiepileptics; lamotrigine; P glycoprotein; pharmacogenetics; therapeutic drug monitoring

Indexed keywords

CARBAMAZEPINE; ETIRACETAM; GABAPENTIN; GLYCOPROTEIN P; LAMOTRIGINE; MULTIDRUG RESISTANCE PROTEIN 1; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

ADULT; ANTICONVULSANT THERAPY; ARTICLE; CLINICAL TRIAL; DOSE RESPONSE; DRUG BLOOD LEVEL; DRUG MONITORING; EPILEPSY; FEMALE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMUNOASSAY; MAJOR CLINICAL STUDY; MALE; MONOTHERAPY; PRIORITY JOURNAL; PROSPECTIVE STUDY; REAL TIME POLYMERASE CHAIN REACTION;

ADULT; ANTICONVULSANTS; DRUG MONITORING; EPILEPSY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; P-GLYCOPROTEIN; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; TRIAZINES;

EID: 84866543520     PISSN: 01634356     EISSN: 15363694     Source Type: Journal    
DOI: 10.1097/FTD.0b013e31826517c6     Document Type: Article

References (54)

1. Sillanpä M, Schmidt D. Natural history of treated childhood-onset epilepsy: prospective, long-term population-based study. Brain. 2006;129:617-622.
2. Marchi N, Gonzales-Martinez J, Nguyen MT, et al. Transporters in drug-refractory epilepsy: clinical significance. Clinic Pharmacol Ther. 2010; 87:13-15.
3. Cascorbi I. ABC transporters in drug-refractory epilepsy: limited clinical significance of pharmacogenetics. Clin Pharmacol Ther. 2010;87:15-19.
4. Dombrowski SM, Desai SY, Marroni M, et al. Overexpression of multiple drug resistance genes in endothelial cells from patients with refractory epilepsy. Epilepsia. 2001:42:1501-1506.
5. Kwan P, Brodie MJ. Potential role of drug transporters in the pathogen-esis of medically intractable epilepsy. Epilepsia. 2005;46:224-235.
6. Soranzo N, Cavalleri GL, Weale NW, et al. Identifying Candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene. Genome Res. 2004;14:1333-1344.
7. Siddiqui A, Kerb R, Weale ME, et al. Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. N Engl J Med. 2003;348:1442-1448.
8. Ebid AH, Ahmed MM, Mohammed SA. Therapeutic drug monitoring and clinical outcomes in epileptic Egyptian patients: a gene polymorphism perspective study. Ther Drug Monit. 2007;29:305-312.
9. Sills GJ, Mohanraj R, Butler E, et al. Lack of association between the C3435T polymorphism in the human multidrug resistance (MDR1) gene and response to antiepileptic drug treatment. Epilepsia. 2005;46:643-647.
10. Shahwan A, Murphy K, Doherty C, et al. The controversial association of ABCB1 polymorphisms in refractory epilepsy: an analysis of multiple SNPs in Irish population. Epilepsy Res. 2007;73:192-198.
11. Potschka H, Fedrowitz M, Loscher W. P-Glycoprotein-mediated efflux of phenobarbital, lamotrigine, and felbamate at the blood-brain barrier: evidence from microdialysis experiments in rats. Neurosci Lett. 2002; 327:173-176.
12. Zhou SF. Structure, function and regulation of P-glycoprotein and its clinical relevance in drug disposition. Xenobiotica. 2008;38:802-832.
13. Cascorbi I. Role of pharmacogenetics of ATP-binding cassette transporters in the pharmacokinetics of drugs. Pharmacol Ther. 2006;112:457-473.
14. Hodges LM, Markova SM, Chinn LW, et al. Very important pharmaco-gene summary: ABCB1 (MDR1, P-glycoprotein). Pharmacogenet Genom. 2011;21:152-161.
15. Hoffmeyer S, Burk O, von Richter O, et al. Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci U S A. 2000;97:3473-3478.
16. Marzolini C, Paus E, Buclin T, et al. Polymorphisms in human MDR1 (P-glycoprotein): recent advances and clinical relevance. Clin Pharmacol Ther. 2004;75:13-33.
17. Eichelbaum M, Fromm MF, Schwab M. Clinical aspects of the MDR1 (ABCB1) gene polymorphism. Ther Drug Monit. 2004;26:180-185.
18. Giessmann T, May K, Modess C, et al. Carbamazepine regulates intestinal P-glycoprotein and multidrug resistance protein MRP2 and influences disposition of talinolol in humans. Clin Pharmacol Ther. 2004;76:192-200.
19. Ieiri I, Takane H, Otsubo K. The MDR1 (ABCB1) gene polymorphism and its clinical implications. Clin Pharmacokinet. 2004;43:553-576.
20. Löscher W, Potschka H. Role of multidrug transporters in pharma-coresistance to antiepileptic drugs. J Pharmacol Exp Ther. 2002;301:7-14.
21. Morris RG, Black AB, Harris AL, et al. Lamotrigine and therapeutic drug monitoring: retrospective survey following the introduction of a routine service. Br J Clin Pharmacol. 1998;46:547-551.
22. Almeida AM, Falcao AC, Sales F, et al. Lamotrigine pharmacokinetic evaluation in epileptic patients submitted to VEEG monitoring. Eur J Clin Pharmacol. 2006;62:737-742.
23. Neels HM, Sierens AC, Naelaerts K, et al. Therapeutic drug monitoring of old and newer anti-epileptic drugs. Clin Chem Lab Med. 2004;42:1229-1255.
24. Johannessen SI, Tomson T. Pharmacokinetic variability of newer antiep-ileptic drugs. When is monitoring needed? Clin Pharmacokinet. 2006;45:1061-1075.
25. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cell. Nucl Acid Res. 1988; 16:1215.
26. Arjomand-Nahad F, Diefenbach K, Landt O, et al. Genotyping of the triallelic variant G2677T/A in MDR1 using LightCycler with locked-nucleic-acid- modified hybridization probes. Anal Biochem. 2004;334:201-203.
27. Oselin K, Gerloff T, Mrozikiewicz PM, et al. MDR1 polymorphisms G2677T in exon 21 and C3435T in exon 26 fail to affect rhodamine 123 efflux in peripheral blood lymphocytes. Fundam Clin Pharmacol. 2003;17:463-469.
28. von Ahsen N, Richter M, Grupp C, et al. No influence of the MDR-1 C3435T polymorphism or a CYP3A4 promoter polymorphism (CYP3A4-V allele) on dose-adjusted cyclosporin A trough concentrations or rejection incidence in stable renal transplant recipients. Clin Chem. 2001;47:1048-1052.
29. Guo SW, Thompson EA. Performing the exact test of Hardy-Weinberg proportions for multiple alleles. Biometrics. 1992;48:361-372.
30. Slatkin M, Excoffier L. Testing for linkage disequilibrium in genotypic data using the EM algorithm. Heredity. 1996;76:377-383.
31. Excoffier L, Laval G, Schneider S. Arlequin ver. 3.01: An Integrated Software Package for Population Genetic Data Analysis. 2006. University of Bern, Bern, Switzerland.
32. Holm S. A simple sequentially rejective multiple test procedure. Scand J Stat. 1979;6;65-70.
33. Rice WR. Analyzing tables of statistical tests. Evolution. 1989;43:223-225.
34. Wang-Tilz Y, Tilz C, Wang B, et al. Influence of lamotrigine and top-iramate on MDR1 expression in difficult-to-treat temporal lobe epilepsy. Epilepsia. 2006;47:233-239.
35. Kwan P, Baum L, Wong V, et al. Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese. Epilepsy Behav. 2007;11:112-117.
36. Hung CC, Tai JJ, Lin CJ, et al. Complex haplotypic effects of the ABCB1 gene on epilepsy treatment response. Pharmacogenomics. 2005;6:411-417.
37. Seo T, Ishitsu T, Ueda N, et al. ABCB1 polymorphisms influence the response to antiepileptic drugs in Japanese epilepsy patients. Pharmaco-genomics. 2006;7:551-561.
38. Zimprich F, Sunder-Plassmann R, Stogmann E, et al. Association of an ABCB1 gene haplotype with pharmacoresistance in temporal lobe epilepsy. Neurology. 2006;63:1087-1089.
39. Weiss J, Kerpen CJ, Lindenmaier H, et al. Interaction of antiepileptic drugs with human P-Glycoprotein in vitro. J Pharmacol Exp Ther. 2003; 307:262-267.
40. Potschka H, Fedrowitz M, Loscher W. P-Glycoprotein-mediated efflux of phenobarbital, lamotrigine, and felbamate at the blood-brain barrier: evidence from microdialysis experiments in rats. Neurosci Lett. 2002; 327:173-176.
41. Potschka H, Fedrowitz M, Loscher W. Brain access and anticonvulsant efficacy of carbamazepine, lamotrigine, and felbamate in ABCC2/MRP2-deficient TR-rats. Epilepsia. 2003;44:1479-1486.
42. Balts S, Gastens AM, Fedrowitz M, et al. Differences in the transport of the antiepileptic drugs phenytoin, levetiracetam and carbamazepine by human mouse P-glycoprotein. Neuropharmacology. 2007;52:333-346.
43. Basic S, Hajnsek S, Bozina N, et al. The influence of C3435T polymorphism of ABCB1 gene on penetration of phenobarbital across the blood-brain barrier in patients with generalized epilepsy. Seizure. 2008; 17:524-530.
44. Patsalos PN, Berry DJ, Bourgeois FD, et al. Antiepileptic drugs-best practice guidelines for therapeutic drug monitoring: a position paper by the Subcommission on Therapeutic Drug Monitoring, ILAE Commission on Therapeutic Strategies. Epilepsia. 2008;49:1239-1276.
45. Nikisch G, Eap CB, Baumann P. Citalopram enantiomers in plasma and cerebrospinal fluid of ABCB1 genotyped depressive patients and clinical response: a pilot study. Pharmacol Res. 2008;58:344-347.
46. Soranzo N, Cavalleri GL, Weale NW, et al. Identifying Candidate causal variants responsible for altered activity of the abcb1 multidrug resistance gene. Genome Res. 2004;14:1333-1344.
47. Kimchi-Sarfaty C, Oh JM, Kim IW, et al. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science. 2007;26:525-528.
48. 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. 2009;84:86-90.
49. Makmor-Bakrey M, Sills GJ, Butler E, et al. Genetic predictors of lamo-trigine maintenance dose; a role for P-glycoprotein? Neurology Asia. 2010;15:54.
50. Marchi N, Gonzales-Martinez J, Nguyen MT, et al. Transporters in drug-refractory epilepsy: clinical significance. Clin Pharmacol Ther. 2010;87:13-15.
51. Potschka H. Targeting regulation of ABC efflux transporters in brain diseases: a novel therapeutic approach. Pharmacol Ther. 2010;125:118-127.
52. Potschka H. Modulating P-glycoprotein regulation: future perspectives for pharmacoresistant epilepsies? Epilepsia. 2010;51:1333-1347.
53. Gulcebi MI, Ozkaynakca A, Goren MZ, et al. The relationship between UGT1A4 polymorphism and serum concentration of lamotrigine in patients with epilepsy. Epilepsy Res. 2011;95:1-8.
54. Blanca Sánchez M, Herranz JL, Leno C, et al. UGT2B7-161C.T polymorphism is associated with lamotrigine concentration-to-dose ratio in a multivariate study. Ther Drug Monit. 2010;32:177-184.