Pharmacogenetics in reproductive and perinatal medicine

Pharmacogenomics

Volumn 11, Issue 1, 2010, Pages 65-79

  Alfirevic, Ana ^a   Alfirevic, Zarko ^b   Pirmohamed, Munir ^a  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

Author keywords

Obstetrics; Perinatal; Pharmacogenetics; Polymorphisms; Reproduction

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ACETYLSALICYLIC ACID; ACYLTRANSFERASE; AMOXICILLIN; ARGININE; ATOSIBAN; BETA ADRENERGIC RECEPTOR; BETAMETHASONE; CODEINE; CYTOCHROME P450; CYTOCHROME P450 2D6; DEXAMETHASONE; DIPYRIDAMOLE; ESTROGEN RECEPTOR; FOLIC ACID; FOLLITROPIN; GLUCOCORTICOID RECEPTOR; GLUCURONOSYLTRANSFERASE 2B7; GLUTAMINE; GLUTATHIONE TRANSFERASE P1; GLYCINE; GLYCOPROTEIN IIIA; HEXOPRENALINE; HYDRALAZINE; NIFEDIPINE; RITODRINE; SERINE; THROMBOXANE B2; TRAMADOL; TRASTUZUMAB; UNINDEXED DRUG;

ANTIPHOSPHOLIPID SYNDROME; CLEFT LIP; CLEFT PALATE; CONGENITAL HEART DISEASE; CONSTIPATION; DIET SUPPLEMENTATION; DOWN SYNDROME; DRUG CLEARANCE; DRUG EFFICACY; DRUG INFORMATION; DRUG LABELING; DRUG METABOLISM; DRUG OVERDOSE; DRUG PENETRATION; DRUG SAFETY; DRUG UTILIZATION; FEEDING DISORDER; FERTILIZATION IN VITRO; FETUS LUNG MATURATION; FOLATE METABOLISM; FOOD AND DRUG ADMINISTRATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GESTATION PERIOD; HEART INFARCTION; HOMOZYGOSITY; HUMAN; HYPOTENSION; INFERTILITY THERAPY; LABOR PAIN; LETHARGY; MEDICAL RESEARCH; METHODOLOGY; NEURAL TUBE DEFECT; OFF LABEL DRUG USE; OVULATION INDUCTION; PERINATAL CARE; PHARMACOGENETICS; POSTPARTUM PAIN; PREDICTION; PREECLAMPSIA; PREGNANCY; PREGNANCY OUTCOME; PREMATURE LABOR; PRESCRIPTION; PUERPERIUM; RECEPTOR BINDING; RECURRENT ABORTION; REPRODUCTION; RESPIRATORY DISTRESS SYNDROME; REVIEW; SOMNOLENCE; STROKE; SYSTEMIC LUPUS ERYTHEMATOSUS; TOCOLYSIS; TREATMENT OUTCOME; UNITED STATES; UNSPECIFIED SIDE EFFECT;

BETAMETHASONE; DEXAMETHASONE; FEMALE; FETUS; FOLIC ACID; HUMANS; INFANT, NEWBORN; LUNG; OVARY; PERINATAL CARE; PHARMACOGENETICS; PRE-ECLAMPSIA; PREGNANCY; REPRODUCTIVE MEDICINE; TOCOLYSIS;

EID: 73649114615     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.09.153     Document Type: Review

References (161)

1. Laberge AM, Psaty BM, Hindorff LA, Burke W: Use of Factor V Leiden genetic testing in practice and impact on management. Genet. Med. 11, 750-756 (2009).
2. Segal JB, Brotman DJ, Necochea AJ et al.: Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. JAMA 301, 2472-2485 (2009).
3. Kearns GL, Ritschel WA, Wilson JT, Spielberg SP: Clinical pharmacology: a discipline called to action for maternal and child health. Clin. Pharmacol. Ther. 81, 463-468 (2007).
4. Kaiser J: Gender in the pharmacy: does it matter? Science 3O8, 1572 (2005).
5. Andrew MA, Easterling TR, Carr DB et al.: Amoxicillin pharmacokinetics in pregnant women: modeling and simulations of dosage strategies. Clin. Pharmacol. Ther. 81, 547-556 (2007).
6. Frueh FW, Amur S, Mummaneni P et.al.: Pharmacogenomic biomarker information in drug labels approved by the United States food and drug administration: prevalence of related drug use. Pharmacotherapy 28, 992-998 (2008).
7. Surh LC, Lesko LJ, Hobbs S et al.: Fit-for-purpose pharmacogenomic biomarkers in drug development: a project team case study with 'what-ifs'. Pharmacogenomics 10, 137-147 (2009).
8. Arai H, Kikuchi W, Ishida A, Takada G: Dexamethasone-induced prenatal alveolar wall thinning is associated with a decrease in EIIIA+ fibronectin isoform in the fetal rat lung. Biol. Neonate 87, 113-120 (2005).
9. Crowley P: Prophylactic corticosteroids for preterm birth. Cochrane Database Syst. Rev. CD000065 (2000). Corticosteroids given prior to preterm birth are effective in preventing respiratory distress syndrome and neonatal mortality.
10. Anderson AB, Gennser G, Jeremy JY, Ohrlander S, Sayers L, Turnbull AC: Placental transfer and metabolism of betamethasone in human pregnancy. Obstet. Gynecol. 49, 471-474 (1977).
11. Perez P, Page A, Bravo A et al.: Altered skin development and impaired proliferative and inflammatory responses in transgenic mice overexpressing the glucocorticoid receptor. FASEB J. 15, 2030-2032 (2001).
12. Koyano S, Saito Y, Nagano M et al.: Functional analysis of three genetic polymorphisms in the glucocorticoid receptor gene. J. Pharmacol. Exp. Ther. 307, 110-116 (2003).
13. Charmandari E, Kino T, Ichijo T, Chrousos GP: Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder. J. Clin. Endocrinol. Metab. 93, 1563-1572 (2008).
14. Charmandari E, Kino T, Ichijo T, Zachman K, Alatsatianos A, Chrousos GP: Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRαR477H and hGRαG679S associated with generalized glucocorticoid resistance. J. Clin. Endocrinol. Metab. 91, 1535-1543 (2006).
15. Lewis-Tuffin LJ, Cidlowski JA: The physiology of human glucocorticoid receptor β (hGRβ) and glucocorticoid resistance. Ann. NY Acad. Sci. 1069, 1-9 (2006).
16. Stevens A, Ray DW, Zeggini E et al.: Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype. J. Clin. Endocrinol. Metab. 89, 892-897 (2004).
17. Oretti C, Marino S, Mosca F et al.: Glutathione-S-transferase-P1 1105V polymorphism and response to antenatal betamethasone in the prevention of respiratory distress syndrome. Eur. J. Clin. Pharmacol. 65(5), 483-491 (2009).
18. Beaudin AE, Stover PJ: Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression. Birth Defects Res. C Embryo Today 81, 183-203 (2007).
19. Blom HJ, Shaw GM, den Heijer M, Finnell RH: Neural tube defects and folate: case far from closed. Nat. Rev. Neurosci. 7, 724-731 (2006).
20. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group. Lancet 338, 131-137 (1991). Folic acid supplementation starting before pregnancy was recommended for women who have had an affected pregnancy.
21. Czeizel AE, Dudas I: Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N. Engl. J. Med. 327, 1832-1835 (1992). Periconceptional folic acid use decreases the incidence of occurrence of neural-tube defects.
22. Yates JR, Ferguson-Smith MA, Shenkin A, Guzman-Rodriguez R, White M, Clark BJ: Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects? Clin. Genet. 31, 279-287 (1987).
23. Yang QH, Botto LD, Gallagher M et al.: Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank. Am. J. Clin. Nutr. 88, 232-246 (2008).
24. De Marco P, Calevo MG, Moroni A et al.: Reduced folate carrier polymorphism (80A - >G) and neural tube defects. Eur. J. Hum. Genet. 11, 245-252 (2003).
25. Shaw GM, Lammer EJ, Zhu H, Baker MW, Neri E, Finnell RH: Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am. J. Med. Genet. 108, 1-6 (2002).
26. Relton CL, Wilding CS, Pearce MS et al.: Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. J. Med. Genet. 41, 256-260 (2004).
27. Brody LC, Conley M, Cox C et al.: A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/ methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am. J. Hum. Genet. 71, 1207-1215 (2002).
28. Parle-McDermott A, Kirke PN, Mills JL et al.: Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. Eur. J. Hum. Genet. 14, 768-772 (2006).
29. Stanislawska-Sachadyn A, Brown KS, Mitchell LE et al.: An insertion/deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in women. Hum. Genet. 123, 289-295 (2008).
30. Johnson WG, Stenroos ES, Spychala JR, Chatkupt S, Ming SX, Buyske S: New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy? Am. J. Med. Genet. A 124A, 339-345 (2004).
31. Parle-McDermott A, Pangilinan F, Mills JL et al.: The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population. Am. J. Med. Genet. A 143A, 1174-1180 (2007).
32. Wolff T, Witkop CT, Miller T, Syed SB: Folic acid supplementation for the prevention of neural tube defects: an update of the evidence for the U.S. Preventive Services Task Force. Ann. Intern. Med. 150, 632-639 (2009).
33. van Beynum IM, Kapusta L, den Heijer M et al.: Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. Eur. Heart J. 27, 981-987 (2006).
34. Badovinac RL, Werler MM, Williams PL, Kelsey KT, Hayes C: Folic acid-containing supplement consumption during pregnancy and risk for oral clefts: a meta-analysis. Birth Defects Res. Part A Clin. Mol. Teratol 79, 8-15 (2007).
35. Wilcox AJ, Lie RT, Solvoll K et al.: Folic acid supplements and risk of facial clefts: national population based case-control study. BMJ 334,464(2007).
36. Boyles AL, Wilcox AJ, Taylor JA et al.: Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. Am. J. Med. Genet. A. 146A, 440-449 (2008).
37. Beetstra S, Thomas P, Salisbury C, Turner J, Fenech M: Folic acid deficiency increases chromosomal instability, chromosome 21 aneuploidy and sensitivity to radiation-induced micronuclei. Mutat. Res. 578, 317-326 (2005).
38. Biselli JM, Goloni-Bertollo EM, Zampieri BL, Haddad R, Eberlin MN, Pavarino-Bertelli EC: Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil. Genet. Mol. Res. 7, 33-42 (2008).
39. Eskes TK: Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature. Eur. J. Obstet. Gynecol. Reprod. Biol. 124, 130-133 (2006).
40. Santos-Reboucas CB, CorreaJC, Bonomo A et al.: The impact of folate pathway polymorphisms combined to nutritional deficiency as a maternal predisposition factor for Down syndrome. Dis. Markers 25, 149-157 (2008).
41. D'Uva M, Di Micco P, Strina I et al.: Hyperhomocysteinemia in women with unexplained sterility or recurrent early pregnancy loss from Southern Italy: a preliminary report. Thromb. J. 5, 10 (2007).
42. Nadir Y, Hoffman R, Brenner B: Association of homocysteine, vitamin B12, folic acid, and MTHFR C677T in patients with a thrombotic event or recurrent fetal loss. Ann. Hematol. 86, 35-40 (2007).
43. Raziel A, Kornberg Y, Friedler S, Schachter M, Sela BA, Ron-El R: Hypercoagulable thrombophilic defects and hyperhomocysteinemia in patients with recurrent pregnancy loss. Am. J. Reprod. Immunol. 45, 65-71 (2001).
44. Zetterberg H, Regland B, Palmer M et al.: Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur. J. Hum. Genet. 10, 113-118 (2002).
45. Quere I, Mercier E, Bellet H, Janbon C, Mares P, Gris JC: Vitamin supplementation and pregnancy outcome in women with recurrent early pregnancy loss and hyperhomocysteinemia. Fertil. Steril. 75, 823-825 (2001).
46. Caritis S: Adverse effects of tocolytic therapy. BJOG 112 (Suppl. 1), 74-78 (2005).
47. Liggett, SB: Polymorphisms of the β2-adrenergic receptor. N. Engl. J. Med. 346,536-538 (2002).
48. Reihsaus E, Innis M, MacIntyre N, Liggett SB: Mutations in the gene encoding for the β2-adrenergic receptor in normal and asthmatic subjects. Am. J. Respir. Cell Mol. Biol. 8, 33A-339 (1993).
49. Landau R, Xie HG, Dishy V et al.: β2-Adrenergic receptor genotype and preterm delivery. Am. J. Obstet. Gynecol. 187, 1294-1298 (2002). An example of a positive pharmacogenetic association in perinatal medicine.
50. Doh K, Sziller I, Vardhana S, Kovacs E, Papp Z, Witkin SS: β2-adrenergic receptor gene polymorphisms and pregnancy outcome. J. Perinat. Med. 32, 413-417 (2004).
51. Ozkur M, Dogulu F, Ozkur A, Gokmen B, Inaloz SS, Aynacioglu AS: Association of the Gln27Glu polymorphism of the β-2-adrenergic receptor with preterm labor. Int. J. Gynaecol. Obstet. 77, 209-215 (2002).
52. Landau R, Morales MA, Antonarakis SE, Blouin JL, Smiley RM: Arg16 homozygosity of the β2-adrenergic receptor improves the outcome after ß2-agonist tocolysis for preterm labor. Clin. Pharmacol. Ther. 78, 656-663 (2005).
53. Caritis SN, Lin LS, Toig G, Wong LK: Pharmacodynamics of ritodrine in pregnant women during preterm labor. Am. J. Obstet. Gynecol. 147, 752-759 (1983).
54. Cararach V, Palacio M, Martinez S et al.: Nifedipine versus ritodrine for suppression of preterm labor. Comparison of their efficacy and secondary effects. Eur. J. Obstet. Gynecol. Reprod. Biol. 127, 204-208 (2006).
55. van De Water M, Kessel ET, De Kleine MJ, Oei SG: Tocolytic effectiveness of nifedipine versus ritodrine and follow-up of newborns: a randomised controlled trial. Acta Obstet. Gynecol. Scand. 87, 340-345 (2008).
56. Kleinbloesem CH, P van Brummelen, Faber H, Danhof M, Vermeulen NP, Breimer DD: Variability in nifedipine pharmacokinetics and dynamics: a new oxidation polymorphism in man. Biochem. Pharmacol. 33, 3721-3724 (1984).
57. Hong X, Xing H, Yu Y et al.: Genetic polymorphisms of the urea transporter gene are associated with antihypertensive response to nifedipine GITS. Methods Find. Exp. Clin. Pharmacol. 29, 3-10 (2007).
58. Lee SJ, Bell DA, Coulter SJ, Ghanayem B, Goldstein JA: Recombinant CYP3A4*17 is defective in metabolizing the hypertensive drug nifedipine, and the CYP3A4*17 allele may occur on the same chromosome as CYP3A5*3, representing a new putative defective CYP3A haplotype. J. Pharmacol. Exp. Ther. 313, 302-309 (2005).
59. Lee SJ, van der Heiden IP, Goldstein JA, van Schaik RH: A new CYP3A5 variant, CYP3A5*11, is shown to be defective in nifedipine metabolism in a recombinant cDNA expression system. Drug Metab. Dispos. 35, 67-71 (2007).
60. Fox NS, Gelber SE, Kalish RB, Chasen ST: Contemporary practice patterns and beliefs regarding tocolysis among U.S. Maternal-fetal medicine specialists. Obstet. Gynecol. 112, 42-47 (2008).
61. Duley L, Henderson-Smart DJ, Meher S: Drugs for treatment of very high blood pressure during pregnancy. Cochrane Database Syst. Rev. 3, CD001449 (2006).
62. Clark DW: Genetically determined variability in acetylation and oxidation. Therapeutic implications. Drugs 29, 342-375 (1985).
63. Lemke LE, McQueen CA: Acetylation and its role in the mutagenicity of the antihypertensive agent hydralazine. Drug Metab. Dispos. 23, 559-565 (1995).
64. Sim E, Lack N, Wang CJ et al.: Arylamine N-acetyltransferases: structural and functional implications of polymorphisms. Toxicology 254, 170-183 (2008). Recent review on aryamine N-acetyltransferase pharmacogenetics.
65. Weber WW: Acetylation pharmacogenetics: experimental models for human toxicity. Fed. Proc. 43, 2332-2337 (1984).
66. Weber WW: Populations and genetic polymorphisms. Mol. Diagn. 4, 299-307 (1999).
67. Haapsamo M, Martikainen H, Rasanen J: Low-dose aspirin and uterine haemodynamics on the day of embryo transfer in women undergoing IVF/ICSI: a randomized, placebo-controlled, double-blind study. Hum. Reprod. 24(4), 861-866 (2009).
68. Askic LM, Dulcy L, Hcndcrson-Smart DJ, Stewart LA: Antiplatelet agents for prevention of pre-eclampsia: a meta-analysis of individual patient data. Lancet 369, 1791-1798 (2007).
69. Antithrombotic Trialists' Collaboration: Collaborative meta-analysis of randomised trials of antiplatelet therapy for prevention of death, myocardial infarction, and stroke in high risk patients. BMJ 324, 71-86 (2002).
70. Gum PA, Kottke-Marchant K, Poggio ED et al.: Profile and prevalence of aspirin resistance in patients with cardiovascular disease. Am. J. Cardiol. 88, 230-235 (2001).
71. Mueller MR, Salat A, Stangl P et al.: Variable platelet response to low-dose ASA and the risk of limb deterioration in patients submitted to peripheral arterial angioplasty. Thromb. Haemost. 78, 1003-1007 (1997).
72. Goodman T, Ferro A, Sharma P: Pharmacogenetics of aspirin resistance: a comprehensive systematic review. Br. J Clin. Pharmacol. 66, 222-232 (2008). A comprehensive review of all candidate gene-association studies in aspirin resistance up until December 2007.
73. Poulsen L, Arendt-Nielsen L, Brosen K, Sindrup SH: The hypoalgesic effect of tramadol in relation to CYP2D6. Clin. Pharmacol. Ther. 60, 636-644 (1996).
74. Stamer UM, Stuber F, Muders T, Musshoff F: Respiratory depression with tramadol in a patient with renal impairment and CYP2D6 gene duplication. Anesth. Analg. 107, 926-929 (2008).
75. Rollason V, Samer C, Piguet V, Dayer P, Desmeules J: Pharmacogenetics of analgesics: toward the individualization of prescription. Pharmacogenomics 9, 905-933 (2008).
76. Somogyi AA, Barratt DT, Coller JK: Pharmacogenetics of opioids. Clin. Pharmacol. Ther. 81,429-444 (2007).
77. American Academy of Pediatrics Committee on Drugs: Transfer of drugs and other chemicals into human milk. Pediatrics 108, 776-789 (2001).
78. Koren G, Cairns J, Chitayat D, Gaedigk A, Leeder SJ: Pharmacogenetics of morphine poisoning in a breastfed neonate of a codeine-prescribed mother. Lancet 368, 704 (2006). Case report that influenced the US FDA recommendations on breastfeeding and opiate reatment.
79. Kirchheine J, Schmidt H, Tzvetkov M et al.: Pharmacokinetics of codeine and its metabolite morphine in ultra-rapid metabolizers due to CYP2D6 duplication. Pharmacogenomics J. 7, 257-265 (2007).
80. Dayer P, Desmeules J, Leemann T, Striberni R: Bioactivation of the narcotic drug codeine in human liver is mediated by the polymorphic monooxygenase catalyzing debrisoquine 4-hydroxylation (cytochrome P-450 dbl/bufI). Biochem. Biophys. Res. Commun. 152, 411-416(1988).
81. Coffman BL, Rios GR, King CD, Tephly TR: Human UGT2B7 catalyzes morphine glucuronidation. Drug Metab. Dispos. 25, 1-4 (1997).
82. Blake MJ, Gaedigk A, Pearce RE et al.: Ontogeny of dextromethorphan O- and N-demethylation in the first year of life. Clin. Pharmacol. Ther. 81, 510-516 (2007).
83. Bateman DN, Eddleston M, Sandilands E: Codeine and breastfeeding. Lancet 372, 625; author reply 626 (2008).
84. Ferner RE: Did the drug cause death? Codeine and breastfeeding. Lancet 372, 606-608 (2008).
85. 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. 85,31-35 (2009).
86. Salha O, Balen AH: New concepts in superovulation strategies for assisted conception treatments. Curr. Opin. Obstet. Gynecol. 12, 201-206 (2000).
87. Kligman I, Rosenwaks Z: Differentiating clinical profiles: predicting good responders, poor responders, and hyperresponders. Fertil. Steril. 76, 1185-1190 (2001).
88. Popovic-Todorovic B, Loft A, Lindhard A, Bangsboll S, Andersson AM, Andersen AN: A prospective study of predictive factors of ovarian response in 'standard' IVF/ICSI patients treated with recombinant FSH. A suggestion for a recombinant FSH dosage normogram. Hum. Reprod. 18, 781-787 (2003).
89. Loutradis D, Vlismas A, Drakakis P, Antsaklis A: Pharmacogenetics in ovarian stimulation - current concepts. Ann. NY Acad. Sci. 1127, 10-19 (2008).
90. Behre HM, Greb RR, Mempel A et al.: Significance of a common single nucleotide polymorphism in exon 10 of the follicle-stimulating hormone (FSH) receptor gene for the ovarian response to FSH: a pharmacogenetic approach to controlled ovarian hyperstimulation. Pharmacogenet. Genomics 15, 451-456 (2005).
91. de Castro F, Moron FJ, Montoro L et al.: Human controlled ovarian hyperstimulation outcome is a polygenic trait. Pharmacogenetics 14,285-293 (2004).
92. Altmae S, Haller K, Peters M et al.: Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization. Mol Hum. Reprod. 13, 521-526 (2007).
93. Gemmell NJ, Slate J: Heterozygote advantage for fecundity. PLoS ONE 1, E125 (2006).
94. Moron FJ, de Castro F, Royo JL et al.: Bone morphogenetic protein 15 (μ15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS). Pharmacogenet. Genomics 16, 485-495 (2006).
95. Moron FJ, Mendoza N, Quereda F et al.: Pyrosequencing technology for automated detection of the μ15 A180T variant in Spanish postmenopausal women. Clin. Chem. 53, 1162-1164 (2007).
96. Karande VC, Korn A, Morris R et al.: Prospective randomized trial comparing the outcome and cost of in vitro fertilization with that of a traditional treatment algorithm as first-line therapy for couples with infertility. Fertil. Steril. 71, 468-475 (1999).
97. Nasseri S, Ledger WL: Clomiphene citrate in the twenty-first century. Hum. Fertil. (Camb.) 4, 145-151 (2001).
98. Steiner AZ, Terplan M, Paulson RJ: Comparison of tamoxifen and clomiphene citrate for ovulation induction: a meta-analysis. Hum. Reprod. 20, 1511-1515 (2005).
99. Rostami-Hodjegan A, Lennard MS, Tucker GT, Ledger WL: Monitoring plasma concentrations to individualize treatment with clomiphene citrate. Fertil. Steril. 81, 1187-1193 (2004).
100. Crewe HK, Notley LM, Wunsch RM, Lennard MS, Gillam EM: Metabolism of tamoxifen by recombinant human cytochrome P450 enzymes: formation of the 4-hydroxy, 4′-hydroxy and N-desmethyl metabolites and isomerization of trans-4-hydroxytamoxifen. Drug Metab. Dispos. 30, 869-874 (2002).
101. Ghobadi C, Gregory A, Crewe HK, Rostami-Hodjegan A, Lennard MS: CYP2D6 is primarily responsible for the metabolism of clomiphene. Drug Metab. Pharmacokinet. 23, 101-105 (2008).
102. Goetz MP, Knox SK, Suman VJ et al.: The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen. Breast Cancer Res. Treat. 101, 113-121 (2007).
103. Goetz MP, Rae JM, Suman VJ et al.: Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes. J. Clin. Oncol. 23, 9312-9318 (2005).
104. Schroth W, Antoniadou L, Fritz P et al.: Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes. J. Clin. Oncol. 25, 5187-5193 (2007). An association between polymorphisms in genes encoding metabolizing enzymes and tamoxifen treatment outcome is discussed.
105. Jin Y, Desta Z, Stearns V et al.: CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment. J. Natl Cancer Inst. 97, 30-39 (2005).
106. Lim YC, Desta Z, Flockhart DA, Skaar TC: Endoxifen (4-hydroxy-N- desmethyl-tamoxifen) has anti-estrogenic effects in breast cancer cells with potency similar to 4-hydroxy-tamoxifen. Cancer Chemother. Pharmacol. 55, 471-478 (2005). Importance of endoxifen, a tamoxifen metabolite in treatment of breast cancer is discussed.
107. Bradford LD: CYP2D6 allele frequency in European Caucasians, Asians, Africans and their descendants. Pharmacogenomics 3, 229-243 (2002).
108. Kiyotani K, Mushiroda T, Sasa M et al.: Impact of CYP2D6*10 on recurrence-free survival in breast cancer patients receiving adjuvant tamoxifen therapy. Cancer Sci. 99, 995-999 (2008).
109. Lim HS, Ju Lee H, Seok Lee K, Sook Lee E, Jang IJ, Ro J: Clinical implications of CYP2D6 genotypes predictive of tamoxifen pharmacokinetics in metastatic breast cancer. J. Clin. Oncol. 25, 3837-3845 (2007).
110. Punglia RS, Burstein HJ, Winer EP, Weeks JC: Pharmacogenomic variation of CYP2D6 and the choice of optimal adjuvant endocrine therapy for postmenopausal breast cancer: a modeling analysis. J. Natl Cancer Inst. 100,642-648 (2008).
111. Xu Y, Sun Y, Yao L et al.: Association between CYP2D6*10 genotype and survival of breast cancer patients receiving tamoxifen treatment. Ann. Oncol. 19(8), 1423-1429 (2008).
112. Nakamura Y, Maekawa R, Yamagata Y, Tamura I, Sugino N: A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea. Gynecol. Endocrinol. 24, 708-712 (2008).
113. Overbeek A, Kuijper EA, Hendriks ML et al.: Clomiphene citrate resistance in relation to follicle-stimulating hormone receptor Ser680Ser-polymorphism in polycystic ovary syndrome. Hum. Reprod. 24, 2007-2013 (2009).
114. Laven JS, Mulders AG, Suryandari DA et al.: Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility. Fertil. Steril. 80, 986-992 (2003).
115. Ahuja SK, Kulkarni H, Catano G et al.: CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1-infected individuals. Nat. Med. 14, 413-420 (2008).
116. Kulkarni H, Agan BK, Marconi VC et al.: CCL3L1-CCR5 genotype improves the assessment of AIDS risk in HIV-1-infected individuals. PLoS ONE 3, E3165 (2008).
117. Lieberman-Blum SS, Fung HB, Bandres JC: Maraviroc: a CCR5-receptor antagonist for the treatment of HIV-1 infection. Clin. Ther. 30, 1228-1250 (2008).
118. Beauclair S, Formento P, Fischel JL et al.: Role of the HER2 [I1e655Val] genetic polymorphism in tumorogenesis and in the risk of trastuzumab-related cardiotoxicity. Ann. Oncol. 18, 1335-1341 (2007).
119. Mass RD, Press MF, Anderson S et al.: Evaluation of clinical outcomes according to HER2 detection by fluorescence in situ hybridization in women with metastatic breast cancer treated with trastuzumab. Clin. Breast Cancer 6, 240-246 (2005).
120. Sawaki M, Ito Y, Tada K et al.: Efficacy and safety of trastuzumab as a single agent in heavily pretreated patients with HER-2/neu-overexpressing metastatic breast cancer. Tumori 90, 40-43 (2004).
121. Mallal S, Phillips E, Carosi G et al.: HLA-B*5701 screening for hypersensitivity to abacavir. JV Engl. J. Med. 358, 568-579 (2008). An example of how a pharmacogenetic test can be used to prevent a specific toxic effect of a drug.
122. Saag M, Balu R, Phillips E et al.: High sensitivity of human leukocyte antigen-b*5701 as a marker for immunologically confirmed abacavir hypersensitivity in white and black patients. Clin. Infect. Dis. 46, 1111-1118 (2008).
123. Alfirevic A, Jorgensen AL, Williamson PR, Chadwick DW, Park BK, Pirmohamed M: HLA-B locus in Caucasian patients with carbamazepine hypersensitivity. Pharmacogenomics 7, 813-818 (2006).
124. Chung WH, Hung SI, Hong HS et al.: Medical genetics: a marker for Stevens-Johnson syndrome. Nature 428, 486 (2004). An association between HLA-B*1502 and carbamazepine-induced Stevens-Johnson syndrome.
125. Lonjou C, Borot N, Sekula P et al.: A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs. Pharmacogenet. Genomics 18, 99-107 (2008).
126. Lonjou C, Thomas L, Borot N et al.: A marker for Stevens-Johnson syndrome...: ethnicity matters. Pharmacogenomics J. 6, 265-268 (2006).
127. Aithal GP, Day CP, Kesteven PJ, Daly AK: Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet 353, 717-719 (1999).
128. Daly AK, Day CP, Aithal GP: CYP2C9 polymorphism and warfarin dose requirements. Br. J. Clin. Pharmacol. 53, 408-409 (2002).
129. Wadelius M, Chen LY, Eriksson N et al.: Association of warfarin dose with genes involved in its action and metabolism. Hum. Genet. 121, 23-34 (2007).
130. Wadelius M, Chen LY, Lindh JD et al.: The largest prospective warfarin-treated cohort supports genetic forecasting. Blood 113,784-792 (2009).
131. Wadelius M, Sorlin K, Wallerman O et al.: Warfarin sensitivity related to CYP2C9, CYP3A5, ABCBl (MDRl) and other factors. Pharmacogenomics J. 4, 40-48 (2004).
132. Evans WE, Hon YY, Bomgaars L et al.: Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J. Clin. Oncol. 19, 2293-2301 (2001).
133. Moloney FJ, Dicker P, Conlon PJ, Shields DC, Murphy GM: The frequency and significance of thiopurine S-methyltransferase gene polymorphisms in azathioprine-treated renal transplant recipients. Br. J. Dermatol. 154, 1199-1200 (2006).
134. Schwab M, Schaffeler E, Marx C et al.: Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. Pharmacogenetics 12,429-436 (2002).
135. Thakur V, Rupar CA, Ramsay DA, Singh R, Fraser DD: Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. Pediatr. Crit. Care Med. 7, 273-276 (2006).
136. Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG: Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum. Mutat. 19, 93-107(2002).
137. Scaglia F, Brunetti-Pierri N, Kleppe S et al: Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J. Nutr. 134, 2775S-2782S; discussion 2796S-2797S (2004).
138. Fukino K, Sasaki Y, Hirai S et al.: Effects of N-acetyltransferase 2 (NAT2), CYP2E1 and glutathione-S-transferase (GST) genotypes on the serum concentrations of isoniazid and metabolites in tuberculosis patients. J. Toxicol. Sci. 33, 187-195 (2008).
139. Roy PD, Majumder M, Roy B: Pharmacogenomics of anti-TB drugs-related hepatotoxicity. Pharmacogenomics 9, 311-321 (2008).
140. Sandy J, Holton S, Fullam E, Sim E, Noble M: Binding of the anti-tubercular drug isoniazid to the arylamine N-acetyltransferase protein from Mycobacterium smegmatis. Protein Sci. 14, 775-782 (2005).
141. de Leon J, Armstrong SC, Cozza KL: Clinical guidelines for psychiatrists for the use of pharmacogenetic testing for CYP450 2D6 and CYP450 2C19. Psychosomatics 47, 75-85 (2006).
142. Kirchheiner J, Nickchen K, Bauer M et al.: Pharmacogenetics of antidepressants and antipsychotics: the contribution of allelic variations to the phenotype of drug response. Mol. Psychiatry 9, 442-473 (2004).
143. Mandrioli R, Forti GC, Raggi MA: Fluoxetine metabolism and pharmacological interactions: the role of cytochrome p450. Curr. Drug Metab. 7, 127-133 (2006).
144. Di Patti F, Fanelli D, Pedersen RS, Giuliani C, Torricelli F: Modelling the pharmacokinetics of tramadol: on the difference between CYP2D6 extensive and poor metabolizers. J. Theor. Biol. 254, 568-574 (2008).
145. Stamer UM, Stuber F: The pharmacogenetics of analgesia. Expert Opin. Pharmacother. 8, 2235-2245 (2007).
146. Rowland K, Ellis SW, Lennard MS, Tucker GT: Variable contribution of CYP2D6 to the N-dealkylation of S-(-)-propranolol by human liver microsomes. Br. J. Clin. Pharmacol. 42, 390-393 (1996).
147. Sowinski KM, Burlew BS: Impact of CYP2D6 poor metabolizer phenotype on propranolol pharmacokinetics and response. Pharmacotherapy 17, 1305-1310 (1997).
148. Meani N, Minardi S, Licciulli S et al.: Molecular signature of retinoic acid treatment in acute promyelocytic leukemia. Oncogene 24, 3358-3368 (2005).
149. Pantic M, Novak A, Marisavljevic D et al.: Additional chromosome aberrations in acute promyelocytic leukemia: characteristics and prognostic influence. Med. Oncol. 17, 307-313 (2000).
150. Park DJ, Vuong PT, de Vos S, Douer D, Koeffler HP: Comparative analysis of genes regulated by PML/RAR α and PLZF/RAR α in response to retinoic acid using oligonucleotide arrays. Blood 102, 3727-3736 (2003).
151. Thielitz A, Gollnick H: Topical retinoids in acne vulgaris: update on efficacy and safety. Am. J. Clin. Dermatol. 9, 369-381 (2008).
152. Dahabreh IJ, Linardou H, Siannis F, Fountzilas G, Murray S: Trastuzumab in the adjuvant treatment of early-stage breast cancer: a systematic review and meta-analysis of randomized controlled trials. Oncologist 13, 620-630 (2008).
153. Dowsett M, Procter M, McCaskill-Stevens W et al.: Disease-free survival according to degree of HER2 amplification for patients treated with adjuvant chemotherapy with or without 1 year of trastuzumab: the HERA Trial. J. Clin. Oncol. 27, 2962-2969 (2009).
154. Meggitt SJ, Gray JC, Reynolds NJ: Azathioprine dosed by thiopurine methyltransferase activity for moderate-to-severe atopic eczema: a double-blind, randomised controlled trial. Lancet 367, 839-846 (2006).
155. Rosario MC, Poland B, Sullivan J, Westby M, van der Ryst E: A pharmacokinetic-pharmacodynamic model to optimize the phase IIa development program of maraviroc J. Acquir. Immune Defic. Syndr. 42, 183-191 (2006).
156. Saag M, Goodrich J, Fatkenheuer G et al.: A double-blind, placebo-controlled trial of maraviroc in treatment-experienced patients infected with non-R5 HIV-1. J. Infect. Dis. 199, 1638-1647 (2009).
157. Sayani FA, Prosser C, Bailey RJ, Jacobs P, Fedorak RN: Thiopurine methyltransferase enzyme activity determination before treatment of inflammatory bowel disease with azathioprine: effect on cost and adverse events. Can. J. Gastroenterol. 19, 147-151 (2005).
158. International Clearinghouse for Birth Defects Surveillance and Research www.icbdsr.org/
159. University of Louisville Department of Pharmacology and Toxicology Consensus Human Arylamine N-Acetyltransferase Gene Nomenclature Http://louisville.edu/medschool/pharmacology/NAT.htlm
160. Use of Codeine By Some Breastfeeding Mothers May Lead To Life-Threatening Side Effects In Nursing Babies http://www.fda.gov/Drugs/DrugSafety/ PublicHealthAdvisories/ucm054717.htm
161. Table of Valid Genomic Biomarkers in the Context of Approved Drug Labels www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm