Pharmacogenomic association study on the role of drug metabolizing, drug transporters and drug target gene polymorphisms in drug-resistant epilepsy in a north Indian population

Indian Journal of Human Genetics

Volumn 17, Issue SUPPL. 1, 2011, Pages

  Kumari, Ritu ^a   Lakhan, Ram ^a   Garg, R ^b   Kalita, J ^a   Misra, U ^a   Mittal, Balraj ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^b KING GEORGE'S MEDICAL UNIVERSITY   (India)

Author keywords

Drug resistance; epilepsy; pharmacogenomics

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; CARBAMAZEPINE; CYTOCHROME P450 2C9; MULTIDRUG RESISTANCE PROTEIN 1; PHENYTOIN; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; VALPROIC ACID;

ADULT; ARTICLE; DNA POLYMORPHISM; DRUG METABOLISM; DRUG RESPONSE; DRUG SENSITIVITY; DRUG TARGETING; EPILEPSY; FEMALE; GENE FREQUENCY; GENOTYPE; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; PHARMACOGENOMICS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79956121229     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.80357     Document Type: Article

References (43)

1. Szoeke CE, Newton M, Wood JM, Goldstein D, Berkovic SF, OBrien TJ, et al. Update on pharmacogenetics in epilepsy: A brief review. Lancet Neurol 2006;5:189-96. (Pubitemid 43107854)
2. Mann MW, Pons G. Drug resistance in partial epilepsy: Epidemiology, mechanisms, pharmacogenetics and therapeutical aspects. Neurochirurgie 2008;54:259-64.
3. Wilson JF, Weale ME, Smith AC, Gratrix F, Fletcher B, et al. Population genetic structure of variable drug response. Nat Genet 2001;29:265-9. (Pubitemid 33096450)
4. Jimenez-Sanchez G. Developing a platform for genomic medicine in Mexico. Science 2003;300:295-6. (Pubitemid 36433714)
5. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, et al. Detection of large-scale variation in the human genome. Nat Genet 2004;36:949-51. (Pubitemid 39167488)
6. McCorryD, Chadwick D, Marson A. Current drug treatment of epilepsy in adults. Lancet Neurol 2004;3:729-35. (Pubitemid 39535258)
7. Browne TR. Pharmacokinetics of antiepileptic drugs. Neurology 1998;51:S2-7. (Pubitemid 28516360)
8. Ferraro TN, Buono RJ. The relationship between the pharmacology of antiepileptic drugs and human gene variation: An overview. Epilepsy Behav 2005;7:18-36. (Pubitemid 40975276)
9. Cordon-Cardo C, O'Brien JP, Casals D, Rittman-Grauer L, Biedler JL, Melamed MR, et al. Multidrugresistance gene (P-glycoprotein) isexpressed by endothelial cells at blood-brain barrier sites. Proc Natl Acad Sci USA 1989;86:695-8. (Pubitemid 19037807)
10. Ghersi-Egea JF, Strazielle N. Choroid plexus transporters for drugs and other xenobiotics. J Drug Target 2002;10: 353-7. (Pubitemid 34746317)
11. Kwan P, Baum L, Wong V, Ng PW, Lui CH, Sin NC, et al. Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese. Epilepsy Behav 2007;11:112-7. (Pubitemid 47087203)
12. Löscher W, Schmidt D. Experimental and clinical evidence for loss of effect (tolerance) during prolonged treatment with antiepileptic drugs. Epilepsia 2006;47:1253-84. (Pubitemid 44200405)
13. Sills GJ, Mohanraj R, Butler E, McCrindle S, Collier L, Wilson EA, et al. Lack of association between the C3435T polymorphism in the human multidrug resistance (MDR1) gene and response to antiepileptic drug treatment. Epilepsia 2005;46:643-7. (Pubitemid 40628658)
14. Armijo JA, Shushtarian M, Valdizan EM, Cuadrado A, de las Cuevas I, Adín J. Ion channelsand epilepsy. Curr Pharm Des 2005;11:1975-2003.
15. Lakhan R, Kumari R, Misra UK, Kalita J, Pradhan S, Mittal B. Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in north Indian population. Br J Clin Pharmacol 2009;68:214-20.
16. Moshe SL. Mechanisms of action of anticonvulsant agents. Neurology 2000;55:S32-40.
17. Bethmann K, Fritschy JM, Brandt C, Loscher W. Antiepileptic drug resistant rats differ from drug responsive rats in GABA A receptor subunit expression in a model of temporal lobe epilepsy. Neurobiol Dis 2008;31:169-87.
18. Ramachandran V, Shorvon SD. Clues to the genetic Influences of drug responsiveness in epilepsy. Epilepsia 2003;44:33-7. (Pubitemid 36206006)
19. Siddiqui A, Kerb R, Weale ME, Brinkmann U, Smith A, Goldstein DB, et al. Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. N Engl J Med 2003;348:1442-8. (Pubitemid 36407173)
20. Lakhan R, Misra UK, Kalita J, Pradhan S, Gogtay NJ, Singh MK, et al. No association of ABCB1 polymorphisms with drug-refractory epilepsy in a north Indian population. Epilepsy Behav 2008;4:78-82.
21. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
22. Aynacioglu AS, Brockmoller J, Bauer S, Sachse C, Guzelbey P, Ongen Z, et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 1999;8: 409-15. (Pubitemid 29417726)
23. Hamdy SI, Hiratsuka M, Narahara K, Endo N, El-Enany M, Moursi N, et al. Genotype and allele frequencies of TPMT, NAT2, GST, SULT1A1 and MDR-1 in the Egyptian population. Br J Clin Pharmacol 2003;55:560-9. (Pubitemid 36783197)
24. Cascorbi I, Gerloff T, Johne A, Meisel C, Hoffmeyer S, Schwab M, et al. Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects. Clin Pharmacol Ther 2001;69:169-74. (Pubitemid 32225417)
25. Chou IC, Peng CT, Tsai FJ, Huang CC, Shi YR, Tsai CH. The lack of association between febrile convulsions and polymorphisms in SCN1A. Epilepsy Res 2003;54:53-7.
26. Haug K, Hallmann K, Rebstock J, Dullinger J, Muth S, Haverkamp F, et al. The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy. Epilepsy Res 2001;47:243-6. (Pubitemid 34008467)
27. Park CS, Park SY, Lee CS, Sohn JW, Hahn GH, Kim BJ. Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population. J Korean Med Sci 2006;21:533-8.
28. Chou IC, Lee CC, Tsai CH, Tsai Y, Wan L, Hsu YA, et al. Association of GABRG2 polymorphisms with idiopathic generalized epilepsy. Pediatr Neurol 2007;36:40-4. (Pubitemid 46427790)
29. Chantal D. The potential of pharmacogenetics in the treatment of epilepsy. Eur J Paediatr Neurol 2006;10:57-65.
30. van der Weide J, Steijns LS, van Weelden MJ, de Haan K. The effect of genetic polymorphism of cytochrome P450 CYP2C9 on phenytoin dose requirement. Pharmacogenetics 2001;11:287-91. (Pubitemid 32537401)
31. Anderson GD. Pharmacokinetic, pharmacodynamic, and pharmacogenetic targeted therapy of antiepileptic drugs. Ther Drug Monit 2008;30:173-80. (Pubitemid 351521644)
32. Hung CC, Lin CJ, Chen CC, Chang CJ, Liou HH. Dosage recommendation of phenytoin for patients with epilepsy with different CYP2C9/CYP2C19 polymorphisms. Ther Drug Monit 2004;26:534-40.
33. Simon C, Stieger B, Kullak-Ublick GA, Fried M, Mueller S, Fritschy JM, et al. Intestinal expression of cytochrome P450 enzymes and ABC transporters and carbamazepine and phenytoin disposition. Acta Neurol Scand 2007;115:232-42. (Pubitemid 46449584)
34. Berg AT, Kelly MM. Defining Intractability: Comparisons among Published Definitions. Epilepsia 2006; 47: 431-6.
35. Lakhan R, Kumari R, Misra UK, Kalita J, Pradhan S, Mittal B. Differential Role of Sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in north Indian population. Br J Clin Pharmacol 2009;68:214-20.
36. Kwan P, Poon WS, Ng HK, Kang DE, Wong V, Ng PW, et al. Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: Correlation among phenotype, genotype, and mRNA expression. Pharmacogenet Genomics 2008;18:989-98.
37. Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, et al. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci USA 2005;102:5507-12. (Pubitemid 40530288)
38. Tate SK, Singh R, Hung CC, Tai JJ, Depondt C, Cavalleri GL, Sisodiya SM, Goldstein DB, Liou HH. A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet Genomics 2006;16:721-6. (Pubitemid 44454866)
39. Abe T, Seo T, Ishitsu T, Nakagawa T, Hori M, Nakagawa K. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br J Clin Pharmacol 2008;66:304-7.
40. Benarroch EE. GABAA receptor heterogeneity, function, and implications for epilepsy. Neurology 2007;68:612-4.
41. Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, et al. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. Eur J Neurosci 2005;22:10-20. (Pubitemid 41059967)
42. Lakhan R, Kalita J, Misra UK, Mittal B. Association of alpha subunit of GABAA receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population. Seizure 2010;19:237-41.
43. Schiller Y, Najjar Y. Quantifying the response to antiepileptic drugs: Effect of past treatment history. Neurology 2008;70:54-65.