Developmental pharmacogenomics

Paediatric Anaesthesia

Volumn 21, Issue 3, 2011, Pages 255-265

  Neville, Kathleen A ^a   Becker, Mara L ^a   Goldman, Jennifer L ^a   Kearns, Gregory L ^a  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

Author keywords

child; infant; neonate; ontogeny; pharmacogenetics; pharmacogenomics

Indexed keywords

ABC TRANSPORTER; ARYLAMINE ACETYLTRANSFERASE; CELECOXIB; CODEINE; CYTOCHROME P450; CYTOCHROME P450 2C19; CYTOCHROME P450 2C9; CYTOCHROME P450 3A4; CYTOCHROME P450 3A5; CYTOCHROME P450 3A7; DIAZEPAM; DRUG METABOLIZING ENZYME; FLURBIPROFEN; GLUCURONOSYLTRANSFERASE; HALOTHANE; IBUPROFEN; ISOFLURANE; METHADONE; MIDAZOLAM; MIVACURIUM; MORPHINE; MORPHINE 6 GLUCURONIDE; NAPROXEN; NONSTEROID ANTIINFLAMMATORY AGENT; PARACETAMOL; PIROXICAM; SUXAMETHONIUM; THIOPURINE METHYLTRANSFERASE; TRAMADOL;

GENOTYPE; HUMAN; INDIVIDUALIZATION; ONTOGENY; PHARMACOGENETICS; PHARMACOGENOMICS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

AGING; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CLINICAL TRIALS AS TOPIC; CYTOCHROME P-450 ENZYME SYSTEM; DRUG THERAPY; ENZYMES; HUMANS; INFANT; PHARMACEUTICAL PREPARATIONS; PHARMACOGENETICS;

EID: 79951621673     PISSN: 11555645     EISSN: 14609592     Source Type: Journal    
DOI: 10.1111/j.1460-9592.2011.03533.x     Document Type: Review

References (90)

1. Kharasch ED,. Special issue on pharmacogenoimcs and anesthesia: work presented at the 2004 journal symposium. Anesthesiology 2005; 102: 493-494. (Pubitemid 40315134)
2. Palmer SN, Giesecke NM, Body SC, et al. Pharmacogenetics of anesthetic and analgesic agents. Anesthesiology 2005; 102: 663-671. (Pubitemid 40315159)
3. Burgner D, Davila S, Breunis WB, et al. A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. PLoS Genet 2009; 5: e1000319.
4. Kugathasan S, Baldassano RN, Bradfield JP, et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet 2008; 40: 1211-1215.
5. Moffatt MF, Kabesch M, Liang L, et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007; 448: 470-473. (Pubitemid 47123521)
6. Yang JJ, Cheng C, Yang W, et al. Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia. JAMA 2009; 301: 393-403.
7. Link E, Parish S, Armitage J, et al. SLCO1B1 variants and statin-induced myopathy - a genomewide study. N Engl J Med 2008; 359: 789-799.
8. Takeuchi F, McGinnis R, Bourgeois S, et al. A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. PLoS Genet 2009; 5: e1000433.
9. Hines RN,. The ontogeny of drug metabolism enzymes and implications for adverse drug events. Pharmacol Ther 2008; 118: 250-267.
10. Hines RN, Koukouritaki SB, Poch MT, et al. Regulatory polymorphisms and their contribution to interindividual differences in the expression of enzymes influencing drug and toxicant disposition. Drug Metab Rev 2008; 40: 263-301. (Pubitemid 352000944)
11. Gaedigk A, Gotschall RR, Forbes NS, et al. Optimization of cytochrome P4502D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data. Pharmacogenetics 1999; 9: 669-682. (Pubitemid 30011931)
12. Sistonen J, Sajantila A, Lao O, et al. CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure. Pharmacogenet Genomics 2007; 17: 93-101.
13. Zanger UM, Raimundo S, Eichelbaum M,. Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry. Naunyn Schmiedebergs Arch Pharmacol 2004; 369: 23-37. (Pubitemid 38161221)
14. Stevens JC, Marsh SA, Zaya MJ, et al. Developmental changes in human liver CYP2D6 expression. Drug Metab Dispos 2008; 36: 1587-1593.
15. Blake MJ, Gaedigk A, Pearce RE, et al. Ontogeny of dextromethorphan O- and N-demethylation in the first year of life. Clin Pharmacol Ther 2007; 81: 510-516. (Pubitemid 46452306)
16. Evans WE, Relling MV, Petros WP, et al. Dextromethorphan and caffeine as probes for simultaneous determination of debrisoquin-oxidation and N-acetylation phenotypes in children. Clin Pharmacol Ther 1989; 45: 568-573. (Pubitemid 19155038)
17. Koren G, Cairns J, Chitayat D, et al. Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet 2006; 368: 704. (Pubitemid 44223697)
18. Madadi P, Ross CJ, Hayden MR, et al. Pharmacogenetics of neonatal opioid toxicity following maternal use of codeine during breastfeeding: a case-control study. Clin Pharmacol Ther 2009; 85: 31-35.
19. Koukouritaki SB, Manro JR, Marsh SA, et al. Developmental expression of human hepatic CYP2C9 and CYP2C19. J Pharmacol Exp Ther 2004; 308: 965-974. (Pubitemid 38263972)
20. Rettie AE, Wienkers LC, Gonzalez FJ, et al. Impaired (S)-warfarin metabolism catalysed by the R144C allelic variant of CYP2C9. Pharmacogenetics 1994; 4: 39-42. (Pubitemid 24106122)
21. Tracy TS, Hutzler JM, Haining RL, et al. Polymorphic variants (CYP2C9 3 and CYP2C9 5) and the F114L active site mutation of CYP2C9: effect on atypical kinetic metabolism profiles. Drug Metab Dispos 2002; 30: 385-390. (Pubitemid 34263822)
22. Lee CR, Goldstein JA, Pieper JA,. Cytochrome P450 2C9 polymorphisms: a comprehensive review of the in-vitro and human data. Pharmacogenetics 2002; 12: 251-263. (Pubitemid 34596790)
23. Goldstein JA,. Clinical relevance of genetic polymorphisms in the human CYP2C subfamily. Br J Clin Pharmacol 2001; 52: 349-355. (Pubitemid 32939439)
24. Xie HG, Stein CM, Kim RB, et al. Allelic, genotypic and phenotypic distributions of S-mephenytoin 4â-hydroxylase (CYP2C19) in healthy Caucasian populations of European descent throughout the world. Pharmacogenetics 1999; 9: 539-549.
25. Hoyo-Vadillo C, Venturelli CR, Gonzalez H, et al. Metabolism of omeprazole after two oral doses in children 1 to 9 months old. Proc West Pharmacol Soc 2005; 48: 108-109. (Pubitemid 43053813)
26. Sim SC, Risinger C, Dahl ML, et al. A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antidepressants. Clin Pharmacol Ther 2006; 79: 103-113. (Pubitemid 43069582)
27. Kearns GL, Leeder JS, Gaedigk A,. Impact of the CYP2C19 17 allele on the pharmacokinetics of omeprazole and pantoprazole in children: evidence for a differential effect. Drug Metab Dispos 2010; 38: 894-897.
28. Wrighton SA, VandenBranden M,. Isolation and characterization of human fetal liver cytochrome P450HLp2: a third member of the P450III gene family. Arch Biochem Biophys 1989; 268: 144-151. (Pubitemid 19038247)
29. Yang H-YL, Lee QP, Rettie AR, et al. Functional cytochrome P4503A isoforms in human embryonic tissues: Expression during organogenesis. Mol Pharmacol 1994; 46: 922-928. (Pubitemid 24364106)
30. Lacroix D, Sonnier M, Moncion A, et al. Expression of CYP3A in the human liver. Evidence that the shift between CYP3A7 and CYP3A4 occurs immediately after birth. Eur J Biochem 1997; 247: 625-634. (Pubitemid 27308642)
31. Paine MF, Shen DD, Kunze KL, et al. First-pass metabolism of midazolam by the human intestine. Clin Pharmacol Ther 1996; 60: 14-24. (Pubitemid 26279216)
32. Thummel KE, O'Shea D, Paine MF, et al. Oral first-pass elimination of midazolam involves both gastrointestinal and hepatic CYP3A-mediated metabolism. Clin Pharmacol Ther 1996; 59: 491-502. (Pubitemid 26193889)
33. Kuehl P, Zhang J, Lin Y, et al. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nat Genet 2001; 27: 383-391. (Pubitemid 32268418)
34. Wrighton SA, Ring BJ, Watkins PB, et al. Identification of a polymorphically expressed member of the human cytochrome P-450III family. Mol Pharmacol 1989; 36: 97-105. (Pubitemid 19191265)
35. Streetman DS, Bertino JS, Nafziger AN,. Phenotyping of drug-metabolizing enzymes in adults: a review of in-vivo cytochrome P450 phenotyping probes. Pharmacogenetics 2000; 10: 187-216. (Pubitemid 30242736)
36. Watkins PB,. Role of cytochromes P450 in drug metabolism and hepatotoxicity. Semin Liver Dis 1990; 10: 235-250.
37. Min DI, Ellingrod VL, Marsh S, et al. CYP3A5 polymorphism and the ethnic differences in cyclosporine pharmacokinetics in healthy subjects. Ther Drug Monit 2004; 26: 524-528. (Pubitemid 39314320)
38. Lin YS, Dowling AL, Quigley SD, et al. Co-regulation of CYP3A4 and CYP3A5 and contribution to hepatic and intestinal midazolam metabolism. Mol Pharmacol 2002; 62: 162-172. (Pubitemid 34680528)
39. Chowbay B, Zhou S, Lee EJ,. An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore. Drug Metab Rev 2005; 37: 327-378. (Pubitemid 40677508)
40. Zheng H, Webber S, Zeevi A, et al. Tacrolimus dosing in pediatric heart transplant patients is related to CYP3A5 and MDR1 gene polymorphisms. Am J Transplant 2003; 3: 477-483. (Pubitemid 36560101)
41. Grenda R, Prokurat S, Ciechanowicz A, et al. Evaluation of the genetic background of standard-immunosuppressant-related toxicity in a cohort of 200 paediatric renal allograft recipients - a retrospective study. Ann Transplant 2009; 14: 18-24.
42. Kadakol A, Sappal BS, Ghosh SS, et al. Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. J Med Genet 2001; 38: 244-249. (Pubitemid 32324509)
43. Monaghan G, McLellan A, McGeehan A, et al. Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. J Pediatr 1999; 134: 441-446. (Pubitemid 30180625)
44. Allegaert K, Vanhaesebrouck S, Verbesselt R, et al. In vivo glucuronidation activity of drugs in neonates: extensive interindividual variability despite their young age. Ther Drug Monit 2009; 31: 411-415.
45. Iyer L, Das S, Janisch L, et al. UGT1A1 28 polymorphism as a determinant of irinotecan disposition and toxicity. Pharmacogenomics J 2002; 2: 43-47. (Pubitemid 34982202)
46. Carlini LE, Meropol NJ, Bever J, et al. UGT1A7 and UGT1A9 polymorphisms predict response and toxicity in colorectal cancer patients treated with capecitabine/irinotecan. Clin Cancer Center 2005; 11: 1226-1236. (Pubitemid 40175775)
47. Krishnaswamy S, Hao Q, Al-Rohaimi A, et al. UDP glucuronosyltransferase (UGT) 1A6 pharmacogenetics: II. Functional impact of the three most common nonsynonymous UGT1A6 polymorphisms (S7A, T181A, and R184S). J Pharmacol Exp Ther 2005; 313: 1340-1346. (Pubitemid 40727040)
48. Tankanitlert J, Morales NP, Howard TA, et al. Effects of combined UDP-glucuronosyltransferase (UGT) 1A1 28 and 1A6 2 on paracetamol pharmacokinetics in beta-thalassemia/HbE. Pharmacology 2007; 79: 97-103. (Pubitemid 46555221)
49. van Oijen MG, Barthelemy C, Janssen MJ, et al. Effect of genetic polymorphisms in UDP-glucuronosyltransferase 1A6 (UGT1A6) on acetylsalicylic acid metabolism in healthy female volunteers. Pharmacology 2009; 83: 237-242.
50. Bhasker CR, McKinnon W, Stone A, et al. Genetic polymorphism of UDP-glucuronosyltransferase 2B7 (UGT2B7) at amino acid 268: ethnic diversity of alleles and potential clinical significance. Pharmacogenetics 2000; 10: 679-685.
51. Court MH, Krishnaswamy S, Hao Q, et al. Evaluation of 3â-azido-3â-deoxythymidine, morphine, and codeine as probe substrates for UDP-glucuronosyltransferase 2B7 (UGT2B7) in human liver microsomes: specificity and influence of the UGT2B7 2 polymorphism. Drug Metab Dispos 2003; 31: 1125-1133. (Pubitemid 37048284)
52. Darbari DS, van Schaik RH, Capparelli EV, et al. UGT2B7 promoter variant -840G>A contributes to the variability in hepatic clearance of morphine in patients with sickle cell disease. Am J Hematol 2008; 83: 200-202. (Pubitemid 351303943)
53. Innocenti F, Liu W, Fackenthal D, et al. Single nucleotide polymorphism discovery and functional assessment of variation in the UDP- glucuronosyltransferase 2B7 gene. Pharmacogenet Genomics 2008; 18: 683-697.
54. Sawyer MB, Innocenti F, Das S, et al. A pharmacogenetic study of uridine diphosphate-glucuronosyltransferase 2B7 in patients receiving morphine. Clin Pharmacol Ther 2003; 73: 566-574. (Pubitemid 37249128)
55. May G,. Genetic differences in drug disposition. J Clin Pharmacol 1994; 34: 881-897.
56. Hadasova E, Brysova V, Kadlcakova E,. N-Acetylation in healthy and diseeased children. Eur J Clin Pharmacol 1990; 39: 43-47.
57. Pariente-Khayat A, Pons G, Rey E, et al. Caffeine acetylator phenotyping during maturation in infants. Pediatr Res 1991; 29: 492-495.
58. Pariente-Khayat A, Rey E, Gendrel D, et al. Isoniazid acetylation metabolic ratio during maturation in children. Clin Pharmacol Ther 1997; 62: 377-383. (Pubitemid 27475221)
59. Zaza G, Cheok M, Krynetskaia N, et al. Thiopurine pathway. Pharmacogenet Genomics 2010; 20: 573-574.
60. Weinshilboum RM, Sladek SL,. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980; 32: 651-662. (Pubitemid 10061685)
61. McLeod HL, Siva C,. The thiopurine S-methyltransferase gene locus-implications for clinical pharmacogenomics. Pharmacogenomics 2002; 3: 89-98. (Pubitemid 34285242)
62. Zhou S,. Clinical pharmacogenomics of thiopurine S-methyltransferase. Curr Clin Pharmacol 2006; 1: 119-128.
63. Lennard L, Gibson BES, Nicole T, et al. Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. Arch Dis Child 1993; 69: 577-579. (Pubitemid 23355853)
64. Lennard L, Lewis IJ, Michelagnoli M, et al. Thiopurine methyltransferase deficiency in childhood lymphoblastic leukaemia: 6-mercaptopurine dosage strategies. Med Pediatr Oncol 1997; 29: 252-255. (Pubitemid 27329123)
65. McLeod HL, Krynetski EY, Wilimas JA, et al. Higher activity of polymorphic thiopurine S-methyltransferase in erythrocytes from neonates compared to adults. Pharmacogenetics 1995; 5: 281-286.
66. Ganiere-Monteil C, Medard Y, Lejus C, et al. Phenotype and genotype for thiopurine methyltransferase activity in the French Caucasian population: impact of age. Eur J Clin Pharmacol 2004; 60: 89-96. (Pubitemid 38626437)
67. Park-Hah JO, Klemetsdal B, Lysaa R, et al. Thiopurine methyltransferase activity in a Korean population sample of children. Clin Pharmacol Ther 1996; 60: 68-74. (Pubitemid 26279223)
68. Leschziner GD, Andrew T, Pirmohamed M, et al. ABCB1 genotype and PGP expression, function and therapeutic drug response: a critical review and recommendations for future research. Pharmacogenomics J 2007; 7: 154-179. (Pubitemid 46794925)
69. Oostendorp RL, Beijnen JH, Schellens JH,. The biological and clinical role of drug transporters at the intestinal barrier. Cancer Treat Rev 2009; 35: 137-147.
70. Johnson TN, Thomson M,. Intestinal metabolism and transport of drugs in children: the effects of age and disease. J Pediatr Gastroenterol Nutr 2008; 47: 3-10.
71. Sissung TM, Gardner ER, Gao R, et al. Pharmacogenetics of membrane transporters: a review of current approaches. Methods Mol Biol 2008; 448: 41-62.
72. Trevino LR, Shimasaki N, Yang W, et al. Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. J Clin Oncol 2009; 27: 5972-5978.
73. Ieiri I, Takane H, Hirota T, et al. Genetic polymorphisms of drug transporters: pharmacokinetic and pharmacodynamic consequences in pharmacotherapy. Expert Opin Drug Metab Toxicol 2006; 2: 651-674. (Pubitemid 46127066)
74. Wang ZJ, Yin OQ, Tomlinson B, et al. OCT2 polymorphisms and in-vivo renal functional consequence: studies with metformin and cimetidine. Pharmacogenet Genomics 2008; 18: 637-645.
75. Chen N, Aleksa K, Woodland C, et al. Ontogeny of drug elimination by the human kidney. Pediatr Nephrol 2006; 21: 160-168. (Pubitemid 43115865)
76. Abdel-Rahman SM, Kauffman RE,. The integration of pharmacokinetics and pharmacodynamics: understanding dose-response. Annu Rev Pharmacol Toxicol 2004; 44: 111-136. (Pubitemid 38263836)
77. de Wildt SN, de Hoog M, Vinks AA, et al. Pharmacodynamics of midazolam in pediatric intensive care patients. Ther Drug Monit 2005; 27: 98-102. (Pubitemid 40189981)
78. Bryant AE, Dreifuss FE,. Valproic acid hepatic fatalities. III. U.S. experience since 1986. Neurology 1996; 46: 465-469. (Pubitemid 26081333)
79. Dreifuss FE, Langer DH, Moline KA, et al. Valproic acid hepatic fatalities. II. US experience since 1984. Neurology 1989; 39: 201-207. (Pubitemid 19059304)
80. Dreifuss FE, Santilli N, Langer DH, et al. Valproic acid hepatic fatalities: a retrospective review. Neurology 1987; 37: 379-385. (Pubitemid 17031731)
81. Spain JW, Roth BL, Coscia CJ,. Differential ontogeny of multiple opioid receptors (mu, delta, and kappa). J Neurosci 1985; 5: 584-588. (Pubitemid 15100447)
82. Weissman BA, Azov R, Sarne Y,. Ontogenesis of enkephalin and humoral endorphin in the rat brain. Neurochem Int 1983; 5: 113-116. (Pubitemid 13127787)
83. Silverman ES, Liggett SB, Gelfand EW, et al. The pharmacogenetics of asthma: a candidate gene approach. Pharmacogenomics J 2001; 1: 27-37. (Pubitemid 33757981)
84. Moore PE, Ryckman KK, Williams SM, et al. Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma. Pediatr Pulmonol 2009; 44: 649-654.
85. Kearns GL, Andersson T, James LP, et al. Omeprazole disposition in children following single-dose administration. J Clin Pharmacol 2003; 43: 840-848. (Pubitemid 36886104)
86. Ward RM, Kearns GL, Tammara B, et al. A Multicenter, Randomized, Open-Label, Pharmacokinetics and Safety Study of Pantoprazole Tablets in Children and Adolescents Aged 6 Through 16 Years With Gastroesophageal Reflux Disease. J Clin Pharmacol 2010; (in press).
87. Garnock-Jones KP, Keating GM,. Atomoxetine: a review of its use in attention-deficit hyperactivity disorder in children and adolescents. Paediatr Drugs 2009; 11: 203-226.
88. Zhao W, Elie V, Roussey G, et al. Population pharmacokinetics and pharmacogenetics of tacrolimus in de novo pediatric kidney transplant recipients. Clin Pharmacol Ther 2009; 86: 609-618.
89. Whelan GJ, Blake K, Kissoon N, et al. Effect of montelukast on time-course of exhaled nitric oxide in asthma: influence of LTC4 synthase A(-444)C polymorphism. Pediatr Pulmonol 2003; 36: 413-420. (Pubitemid 37296702)
90. Gaedigk A, Simon SD, Pearce RE, et al. The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype. Clin Pharmacol Ther 2008; 83: 234-242.