Association of ABCB1 gene polymorphisms and their haplotypes with response to antiepileptic drugs: A systematic review and meta-analysis

Pharmacogenomics

Volumn 12, Issue 5, 2011, Pages 713-725

  Haerian, Batoul Sadat ^a   Lim, Kheng Seang ^a   Tan, Chong Tin ^a   Raymond, Azman Ali ^b   Mohamed, Zahurin ^a  

^a UNIVERSITY OF MALAYA   (Malaysia)

^b UNIVERSITI KEBANGSAAN MALAYSIA   (Malaysia)

Author keywords

ABCB1; antiepileptic drugs; epilepsy; haplotype; meta analysis; P glycoprotein; pharmacoresistance; polymorphism

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; GLYCOPROTEIN P; LAMOTRIGINE; MULTIDRUG RESISTANCE PROTEIN 1; PHENOBARBITAL; PHENYTOIN; VALPROIC ACID;

ABCB1 GENE; ALLELE; ARTICLE; DISEASE ASSOCIATION; DNA POLYMORPHISM; DRUG RESPONSE; EPILEPSY; ETHNIC DIFFERENCE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; META ANALYSIS; STEVENS JOHNSON SYNDROME; SYSTEMATIC REVIEW; TOXIC EPIDERMAL NECROLYSIS; UNSPECIFIED SIDE EFFECT;

ALLELES; ANTICONVULSANTS; EPILEPSY; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HAPLOTYPES; HUMANS; P-GLYCOPROTEIN; POLYMORPHISM, GENETIC; TREATMENT OUTCOME;

EID: 79957666406     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.10.212     Document Type: Article

References (75)

1. Sarkadi B, Homolya L, Szakacs G, Varadi A: Human multidrug resistance ABCB and ABCG transporters: participation in a chemoimmunky defense system. Physiol. Rev. 86, 1179-1236 (2006). (Pubitemid 44521651)
2. Loscher W: Mechanisms of drug resistance. Epileptic Disord. 7(Suppl. 1), S3-S9 (2005). (Pubitemid 41392408)
3. Siddiqui A, Kerb R, Weale ME et al: Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCBl. N. Engl. J. Med. 348, 1442-1448 (2003). (Pubitemid 36407173)
4. Hajnsek S, Basic S, Poljakovic Z, Bozina N: Utjecaj C3435T polimorfizma MDRl gena na ucinkovhost medikamentnog lijecenja epilesia. Neurol. Croat. 53, 69-78 (2004). (Pubitemid 40444221)
5. Soranzo N, Cavalleri GL, Weale ME et al.: Identifying candidate causal variants responsible for altered activity of the ABCBl multidrug resistance gene. Genome Res. 14, 1333-1344 (2004). (Pubitemid 39029230)
6. Hung CC, Tai JJ, Lin CJ, Lee MJ, Liou HH: Complex haplotypic effects of the ABCBl gene on epilepsy treatment response. Pharmacogenomics 6, 411-417 (2005). (Pubitemid 40916364)
7. Seo T, Ishitsu T, Ueda N et al.: ABCBl polymorphisms influence the response to antiepileptic drugs in Japanese epilepsy patients. Pharmacogenomics 7, 551-561 (2006). (Pubitemid 43891412)
8. Ebid AH, Ahmed MM, Mohammed SA: Therapeutic drug monitoring and clinical outcomes in epileptic Egyptian patients: a gene polymorphism perspective study. Ther. Drug. Momt. 29(3), 305-312 (2007). (Pubitemid 47262260)
9. Hung CC, Tai J, Kao PJ, Lin MS, Liou HH: Association of polymorphisms in NR1I2 and ABCBl genes with epilepsy treatment responses. Pharmacogenomics 8, 1151-1158 (2007). (Pubitemid 47578224)
10. Kwan P, Baum L, Wong V et al.: Association between ABCBl C3435T polymorphism and drug-resistance epilepsy in Han Chinese. Epilepsy Behav. 11, 112-117(2007). (Pubitemid 47087203)
11. Kwan P, Wong V, Ng PW et al.: Gene-wide tagging study of association between ABCBl polymorphisms and multidrug resistance in epilepsy in Han Chinese. Pharmacogenomics 10,723-732 (2009).
12. Sanchez MB, Herranz JL, Leno C et al.: Genetic factors associated with drug-resistance of epilepsy: relevance of stratification by patient age and aetiology of epilepsy. Seizure 19, 93-101 (2010).
13. Alpman A, Ozkinay F, Tekgul H et al.: Multidrug resistance 1 {MDRl) gene polymorphisms in childhood drug-resistant epilepsy. J. Child Neurol. 25(12), 1485-1490 (2010).
14. Tan NCK, Heron SE, Scheffer IE et al.: Failure to confirm association of a polymorphism in ABCBl with multidrug-resistance epilepsy. Neurology 63, 1090-1092 (2004). (Pubitemid 39287923)
15. Sills GJ, Mohanraj R, Butler E et al.: Lack of association between the C3435T polymorphism in the human multidrug resistance {MDRl) gene and response to antiepileptic drug treatment. Epilepsia 46, 643-647(2005). (Pubitemid 40628658)
16. Kim DW, Kim M, Lee SK, Kang R, Lee SY: Lack of association between C3435T nucleotide MDRl genetic polymorphism and multidrug-resistance epilepsy. Seizure 15, 344-347 (2006). (Pubitemid 43812238)
17. Kim YO, Kim MK, Woo YJ et al: Single nucleotide polymorphisms in the multidrug resistance 1 gene in Korean epileptics. Seizure 15, 67-72 (2006). (Pubitemid 43092098)
18. Chen L, Liu CQ, Hu Y, Xiao ZT, Chen Y, LiaoJX: [Association of a polymorphism in MDRl C3435T with response to antiepileptic drug treatment in ethic Han Chinese children with epilepsy]. Zhongguo Dang Dai Er Ke Za Zhi 11-14 (2007). (Pubitemid 46322423)
19. Shahwan A, Murphy K, Doherty C et al: The controversial association of ABCBl polymorphisms in refractory epilepsy: an analysis of multiple SNPs in an Irish population. Epilepsy Res. 73, 192-198 (2007). (Pubitemid 46331873)
20. Dericioglu N, Babaoglu MO, Yasar U, Bal IB, Bozkurt A, Saygi S: Multidrug resistance in patients undergoing resective epilepsy surgery is not associated with C3435T polymorphism in the ABCBl {MDRl) gene. Epilepsy Res. 80, 42-46 (2008).
21. Ozgon GO, Bebek N, Gul G, Cine N: Association of MDRl (C3435T) polymorphism and resistance to carbamazepine in epileptic patients from Turkey. Eur. Neurol. 59, 67-70 (2008). (Pubitemid 350277263)
22. Kim DW, Lee SK, Chu K, Jang IJ, Yu KS, Cho JY: Lack of association between ABCBl, ABCG2, and ABCC2 genetic polymorphisms and multidrug resistance in partial epilepsy Epilepsy Res. 84, 86-90 (2009).
23. Lakhan R, Misra UK, Kalita J et al.: No association of ABCBl polymorphisms with drug-refractory epilepsy in a north Indian population. Epilepsy Behav. 14,78-82 (2009).
24. Szoeke C, Sills GJ, Kwan P et al.: Multidrug-resistance genotype {ABCBl) and seizure recurrence in newly treated epilepsy: data from International Pharmacogenetic Cohorts. Epilepsia 50(7), 1689-1696 (2009).
25. Ufer M, Mosyagin I, Muhle H et al.: Non-response to antleplleptic pharmacotherapy Is associated with the ABCC2 -24C > T polymorphism in young and adult patients with epilepsy Pharmacogenet. Genom. 19,353-362 (2009).
26. Vahab SA, Sen S, Ravindran N et al.: Analysis of genotype and haplotype effects of ABCBl {MDRl) polymorphisms in the risk of medically refractory epilepsy in an Indian population. DrugMetah. Pharmacokinet. 24, 255-260 (2009).
27. Grover S, Bala K, Sharma S et al. Absence of a general association between ABCBl genetic variants and response to antleplleptic drugs in epilepsy patients. Biochimie92(9), 1207-1212 (2010).
28. Leschziner GD, Andrew T, Leach JP et al.: Common ABCBl polymorphisms are not associated with multidrug resistance in epilepsy using a gene-wide tagging approach. Pharmacogenet. Genomics 17, 217-220 (2007). (Pubitemid 46668006)
29. Bournissen FG, Moretti ME, Juurlink DN, Koren G, Walker M, Finkelstein Y: Polymorphism of the MDRl I ABCBl C3435T drug-transporter and resistance to anticonvulsant drugs: a meta-analysis. Epilepsia 50, 898-903 (2009).
30. Nurmohamed L, Garcia-Bournissen F, Buono RJ, Shannon MW, Finkelstein Y. Predisposition to epilepsy-does the ABCBl gene play a role? Epilepsia 51, 1882-1885 (2010).
31. Haerian BS, Roslan H, Raymond AA et al.: ABCBl C3435T polymorphism and the risk of resistance to antleplleptic drugs in epilepsy: a systematic review and meta-analysis. Seizure 19,339-346(2010).
32. Zimprlch F, Sunder-Plassmann R, Stogmann E, Gleiss A, Dai-Bianco A, Zimprich A: Association of an ABCBl gene haplotype with pharmacoreslstance to AEDs in temporal lobe epilepsy. Neurology 63, 1087-1089 (2004). (Pubitemid 39287922)
33. Bax L, Yu LM, Ikeda N, Tsuruta H, Moons KG: Development and validation of MIX: comprehensive free software for meta-analysis of causal research data. BMC Med. Res. Methodol. 6, 1-11 (2006).
34. Otto J: Association of genetic loci replication or not, that is the question. Neurology 63, 955-958 (2004).
35. Tan NCK, Mulley JC, Berkovic SF: Genetic association studies in epilepsy: the truth is out there. Epilepsia 45, 1429-1442 (2004). (Pubitemid 39470047)
36. Loscher W, KlotzU, Zimprich F, Schmidt D: The clinical impact of pharmacogenetics on the treatment of epilepsy Epilepsia 50, 1-23 (2009).
37. Ameyaw MM, Regateiro F, Li T: MDRl pharmacogenetics: frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity. Pharmacogenetics 11, 217-221 (2001). (Pubitemid 32319871)
38. Kasperaviciute D, Catarino CB, Heinzen EL etal.: Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 1-12 (2010).
39. Jorde LB, Wooding SP. Genetic variation, classification and 'race'. Nat. Genet. 36, S28-S33 (2004).
40. Sabeti PC, Schaffner SF, Fry B etal.: Positive natural selection in the human lineage. Science 16(312), 1614-1620 (2006). (Pubitemid 43902654)
41. Campbell MC, Tishkoff SA: African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu. Rev. Genomics Hum. Genet. 9,403-433 (2008).
42. 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 (2009).
43. Sillanpaa M, Jalava M, Shinnar S: Epilepsy syndromes in patients with childhood-onset seizures in Finland. Pediatr. Neurol. 21, 533-537 (1999). (Pubitemid 29366819)
44. Loscher W: Mechanisms of drug resistance. Epileptic Disord. 7(Suppl. 1), S3-S9 (2005). (Pubitemid 41392408)
45. Schmidt D, Loscher W Drug resistance in epilepsy: putative neurobiologic and clinical mechanisms. Epilepsia 46, 858-877 (2005). (Pubitemid 40847354)
46. Gamble CL, Williamson PR, Marson AG: Lamotriglne versus carbamazepine monotherapy for epilepsy. Cochrane Database Syst. Rev. 25(1), CD001031 (2006).
47. Marson AG, Williamson PR, Clough H, Hutton JL, Chadwick DW; Epilepsy Monotherapy Trial Group: Carbamazepine versus valproate monotherapy for epilepsy: a meta-analysis. Epilepsia 43, 505-513 (2002). (Pubitemid 34533706)
48. Tudur Smith C, Marson AG, Williamson PR: Phenytoln versus valproate monotherapy for partial onset seizures and generalized onset tonic-clonic seizures. Cochrane Database Syst. Rev. 4, CD001769 (2001).
49. Tudur Smith C, Marson AG, Clough HE, Williamson PR: Carbamazepine versus phenytoln monotherapy for epilepsy. Cochrane Database Syst. Rev. 2, CD001911 (2002).
50. Patsalos PN, Froscher W Pisani F, van Rijn CM: The importance of drug interactions in epilepsy therapy. Epilepsia 43, 365-385 (2002). (Pubitemid 34297175)
51. Cascorbl I: ABC transporters in drug-refractory epilepsy: limited clinical significance of pharmacogenetics? Clin. Pharmacol. Ther. 87, 15-18 (2010).
52. Owen A, Pirmohamed M, Tettey JN, Morgan P, Chadwick D, Park BK: Carbamazepine is not a substrate for P-glycoprotein Br. J. Clin. Pharmacol. 51, 345-349(2001).
53. Bakes S, Fedrowitz M, Tortos CL, Potschka H, Loscher W: Valproic acid is not a substrate for P-glycoprotein or multidrug resistance proteins 1 and 2 in a number of in vitro and in vivo transport assays. J. Pharmacol. Exp. Ther. 320,331-343 (2007). (Pubitemid 46025748)
54. Eyal S, Lamb JG, Smith-Yockman M etal.: The antleplleptic and anticancer agent, valproic acid, induces P-glycoprotein in human tumour cell lines and in rat liver. Br. J. Pharmacol. 149, 250-260 (2006). (Pubitemid 44453425)
55. Zhang J, Kuehl P, Green ED etal.: The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants. Pharmacogenetics 11, 555-572 (2001). (Pubitemid 32953582)
56. Zintzaras E, Lau J: Synthesis of genetic association studies for pertinent gene-disease associations appropriate methodological and statistical approaches. J. Clin. Epidemiol. 61, 634-645 (2008). (Pubitemid 351766746)
57. Jacobs MP, Leblanc GG, Brooks-Kayal A et al.: Curing epilepsy: progress and future directions. Epilepsy Behav. 14, 438-445 (2009).
58. Szoeke CE, Newton M, WoodJM etal.: Update on pharmacogenetics in epilepsy: a brief review. Lancet Neurol. 5, 189-196 (2006). (Pubitemid 43107854)
59. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB: Rare variants create synthetic genome-wide associations. PLoS Biol. 8, el000294 (2010).
60. SO Miura M, Satoh S, Inoue K et al.: Influence of CYP3A5, ABCBl and NR1I2 polymorphisms on prednisolone pharmacokinetics in renal transplant recipients. Steroids 73, 1052-1059 (2008).
61. SI Hirota T, Takane H, Higuchi S, Ieiri I: Epigenetic regulation of genes encoding drug-metabolizing enzymes and transporters; DNA methylation and other mechanisms. Curr. DrugMetabol. 9, 34-38 (2008). (Pubitemid 351201668)
62. Scotto KW: Transcriptional regulation of ABC drug transporters. Oncogene 22, 7496-7511 (2003). (Pubitemid 37487172)
63. Kostrouchova M, Kostrouch Z, Kostrouchova M: Valproic acid, a molecular lead to multiple regulatory pathways. Folia Biol. (Praha) 53, 37-49 (2007). (Pubitemid 46546777)
64. Mosyagin I, Runge U, Schroeder HW et al.: Association of ABCBl genetic variants 3435C>T and 2677G>T to ABCBl mRNA and protein expression in brain tissue from refractory epilepsy patients. Epilepsia 49, 1555-1561 (2008).
65. Wang D, Johnson AD, Papp AC, Kroetz DL, Sadee W: Multidrug resistance polypeptide 1 (MDR1, ABCBl) variant 3435C>T affects mRNA stability. Pharmacogenet. Genomics 15, 693-704(2005). (Pubitemid 41345321)
66. Hutchison KE, Stallings M, McGeary J, Bryan A: Population stratification in the candidate gene study: fatal threat or red herring? Psychol. Bull. 130, 66-79 (2004). (Pubitemid 38085392)
67. Tishkoff SA, Verrelli BC: Patterns of human genetic diversity: implications for human evolutionary history and disease. Annu. Rev. Genomics Hum. Genet. 4, 293-340 (2003). (Pubitemid 37392927)
68. Hinds DA, Stuve LL, Nilsen GB et al.: Whole-genome patterns of common DNA variation in three human populations. Science 307, 1072-1078 (2005).
69. International HapMap Consortium: A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851-861 (2007).
70. Altshuler D, Brooks LD, Chakravarti A et al.: A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
71. Wang S, Haynes C, Barany F, Ott J: Genome-wide autozygoshy mapping in human populations. Genet. Epidemiol. 33, 172-180 (2009).
72. Bacolod MD, Schemmann GS, Wang S et al.: The signatures of autozygosky among patients with colorectal cancer. Cancer Res. 68, 2610-2621 (2008). (Pubitemid 351559606)
73. Puffenberger EG, Strauss KA, Ramsey KE et air. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain 130(Pt7), 1929-1941 (2007). (Pubitemid 47343799)
74. Greenawalt DM, Cui X, Wu Y et air. Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21. Genome. Res. 16, 208-214 (2006). (Pubitemid 43200269)
75. Freudenberg J, Fu YH, Ptacek LJ: Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection? Eur. J. Hum. Genet. 15, 1071-1078 (2007). (Pubitemid 47500012)