Allelic, genotypic and phenotypic distributions of S-mephenytoin 4'-hydroxylase (CYP2C19) in healthy Caucasian populations of European descent throughout the world

Pharmacogenetics

Volumn 9, Issue 5, 1999, Pages 539-549

  Xie, Hong Guang ^a   Stein, C Michael ^a   Kim, Richard B ^a   Wilkinson, Grant R ^a   Flockhart, David A ^b   Wood, Alastair J J ^a,c  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Allele; Caucasians; CYP2C19; Genetic polymorphism; Genotype; Meta analysis; Pharmacogenetics; Phenotype; S mephenytoin 4' hydroxylation; SNP

Indexed keywords

MEPHENYTOIN;

ARTICLE; CAUCASIAN; DRUG HYDROXYLATION; DRUG METABOLISM; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOTE; HUMAN; PHARMACOGENETICS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032716358     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-199910000-00001     Document Type: Article

References (77)

1. Alván G, Bechtel P, Iselius L, Gundert-Remy U. Hydroxylation polymorphisms of debrisoquine and mephenytoin in European populations. Eur J Clin Pharmacol 1990; 39:533-537.
2. Andersson T, Regårdh C-G, Dahl-Puustinen M-L, Bertilsson L. Slow omeprazole metabolizers are also poor S-mephenytoin hydroxylators. Ther Drug Monit 1990; 12:415-416.
3. Andersson T, Regårdh C-G, Lou Y-C, Zhang Y, Dahl M-L, Bertilsson L. Polymorphic hydroxylation of S-mephenytoin and omeprazole metabolism in Caucasian and Chinese subjects. Pharmacogenetics 1992; 2:25-31.
4. Balian JD, Sukhova N, Harris JW, Hewett J, Pickle L, Goldstein JA, et al. The hydroxylation of omeprazole correlates with S-mephenytoin metabolism: a population study. Clin Pharmacol Ther 1995; 57:662-669.
5. Basci NE, Brøsen K, Bozkurt A, Isimer A, Sayal A, Kayaalp SO. S-mephenytoin, sparteine and debrisoquine oxidation: genetic polymorphisms in a Turkish population. Br J Clin Pharmacol 1994; 38:463-465.
6. Basci NE, Bozkurt A, Kortunay S, Isimer A, Sayal A, Kayaalp SO. Proguanil metabolism in relation to S-mephenytoin oxidation in a Turkish population. Br J Clin Pharmacol 1996; 42:771-773.
7. Bathum L, Hansen TS, Horder M, Brøsen K, A dual label oligonucleotide ligation assay for detection of the CYP2C19*1, CYP2C19*2, and CYP2C19*3 alleles involving time-resolved fluorometry. Ther Drug Monit 1998a; 20:1-6.
8. Bathum L, Andersen-Ranberg K, Boldsen J, Brøsen K, Jeune B. Genotypes for the cytochrome P450 enzymes CYP2D6 and CYP2C19 in human longevity: role of CYP2D6 and CYP2C19 in longevity. Eur J Clin Pharmacol 1998b; 54:427-430.
9. Bertilsson L, Lou Y-Q, Du Y-L, Liu Y, Kuang T-Y, Liao X-M, et al. Pronounced differences between native Chinese and Swedish populations in the polymorphic hydroxylation of debrisoquine and S-mephenytoin. Clin Pharmacol Ther 1992; 51:388-397.
10. Bertilsson L, Kalow W. Why are diazepam metabolism and polymorphic S-mephenytoin hydroxylation associated with each other in white and Korean populations but not in Chinese populations? Clin Pharmacol Ther 1993; 53:608-610.
11. Bertilsson L. Geographic/interracial differences in polymorphic drug oxidation: current state of knowledge of cytochromes P450 (CYP) 2D6 and 2C19. Clin Pharmacokinet 1995; 29:192-209.
12. Breimer DD, Schellens JHM, Soons PA. Assessment of in vivo oxidative drug metabolizing enzyme activity in man by applying a cocktail approach. In: Miners JO, Birkett DJ, Drew R, May BK, McManus M editors. Proceedings of the VIIth International Symposium on microsomes and drug oxidations. Adelaide, 17-21 August 1987. London: Tayler and Francis; 1988. pp. 232-240.
13. Brockmöller J. Rost KL, Gross D, Schenkel A, Roots I. Phenotyping of CYP2C19 with enantiospecific HPLC-quantification of R- and S-mephenytoin and comparison with the intron4/exon 5 G to A-splice site mutation. Pharmacogenetics 1995; 5:80-88.
14. Brøsen K, de Morais SMF, Meyer UA, Goldstein JA. A multifamily study on the relationship between CYP2C19 genotype and S-mephenytoin oxidation phenotype. Pharmacogenetics 1995; 5:312-317.
15. Chang M, Dahl M-L, Tybring G, Götharson E, Bertilsson L. Use of omeprazole as a probe drug for CYP2C19 phenotype in Swedish Caucasians: comparison with S-mephenytoin hydroxylation phenotype and CYP2C19 genotype. Pharmacogenetics 1995a; 5:358-363.
16. Chang M, Tybring G, Dahl M-L, Götharson E, Sagar M, Seensalu R, Bertilsson L. Interphenotype differences in disposition and effect on gastrin levels of omeprazole: suitability of omeprazole as a probe for CYP2C19. Br J Clin Pharmacol 1995b; 39:511-518.
17. Coller JK, Somogyi AA, Bochner F. Association between CYP2C19 genotype and proguanil oxidative polymorphism. Br J Clin Pharmacol 1997; 43:659-660.
18. D'Agostino RB, Weintraub M. Meta-analysis: a method for synthesizing research. Clin Pharmacol Ther 1995; 58:605-616.
19. de Morais SMF, Wilkinson GR, Blaisdell J, Nakamura K, Meyer UA, Goldstein JA. The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem 1994a; 269:15419-15422.
20. de Morais SMF, Wilkinson GR, Blaisdell J, Meyer UA, Nakamura K, Goldstein JA. Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese. Mol Pharmacol 1994b; 46:594-598.
21. de Morais SMF, Goldstein JA, Xie H-G, Huang S-L, Lu Y-Q, Xia H, et al. Genetic analysis of the S-mephenytoin polymorphism in a Chinese population. Clin Pharmacol Ther 1995; 58:404-411.
22. Drøhse A, Bathum L, Brøsen K, Gram LF. Mephenytoin and sparteine oxidation: genetic polymorphisms in Denmark. Br J Clin Pharmacol 1989; 27:620-625.
23. Ferguson RJ, de Morais SMF, Benhamou S, Bouchardy C, Blaisdell J, Ibeanu G, et al. A new genetic defect in human CYP2C19: Mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin. J Pharmacol Exp Ther 1998; 284:356-361.
24. Flockhart DA, Clauw DJ, Sale EB, Hewett J, Woosley RL. Pharmacogenetic characteristics of the eosinophilia-myalgia syndrome. Clin Pharmacol Ther 1994; 56: 398-405.
25. Furuta T, Ohashi K, Kamata T, Takashima M, Kosuge K, Kawasaki T, et al. Effect of genetic differences in omeprazole metabolism on cure rates for Helicobacter pylori infection and peptic ulcer. Ann Intern Med 1998; 129:1027-1030.
26. Goldstein JA, Faletto MB, Romkes-Sparks M, Sullivan T, Kitareewan S, Raucy JL, et al. Evidence that CYP2C19 is the major (S)-mephenytoin 4′-hydroxylase in humans. Biochemistry 1994; 33:1743-1752.
27. Goldstein JA, Blaisdell J. Genetic tests which identify the principle defects in CYP2C19 responsible for the polymorphism in mephenytoin metabolism. Methods Enzymol 1996; 272:210-218.
28. Goldstein JA, Ishizaki T, Chiba K, de Morais SMF, Bell D, Krahn PM, Price Evans DA. Frequencies of the defective CYP2C19 alleles responsible for the mephenytoin poor metabolizer phenotype in various Oriental, Caucasian, Saudi Arabian and American black populations. Pharmacognetics 1997; 7:59-64.
29. Gray IC, Nobile C, Muresu R, Ford S, Spurr NK. A 2.4-megabase physical map spanning the CYP2C gene cluster on chromosome 10q24. Genomics 1995; 28:328-332.
30. Guttendorf RJ, Britto M, Blouin RA, Foster TS, John W, Pittman KA, Wedlund PJ. Rapid screening for polymorphism in dextromethorphan and mephenytoin metabolism. Br J Clin Pharmacol 1990; 29:373-380.
31. Helsby NA, Ward SA, Edwards G, Howells RE, Breckenridge AM. The pharmacokinetics and activation of proguanil in man: consequences of variability in drug metabolism. Br J Clin Pharmacol 1990; 30:593-598.
32. Hoskins JM, Shenfield GM, Gross AS. Relationship between proguanil metabolic ratio and CYP2C19 genotype in an Australian Caucasian population. Clin Pharmacol Ther 1997; 61:226.
33. Hoskins JM, Shenfield GM, Gross AS. Relationship between proguanil metabolic ratio and CYP2C19 genotype in a Caucasian population. Br J Clin Pharmacol 1998; 46:499-504.
34. Ibeanu GC, Blaisdell J, Ghanayem BI, Beyeler C, Benhamou S, Bouchardy C, et al. An additional defective allele, CYP2C19*5, contributes to the S-mephenytoin poor metabolizer phenotype in Caucasians. Pharmacogenetics 1998a; 8:129-135.
35. Ibeanu GC, Goldstein JA, Meyer U, Benhamou S, Bouchardy C, Dayer P, et al. Identification of new human CYP2C19 alleles (CYP2C19*6 and CYP2C19*2B) in a Caucasian poor metabolizer of mephenytoin. J Pharmacol Exp Ther 1998b; 286:1490-1495.
36. Ieiri I, Kubota T, Urae A, Kimura M, Wada Y, Mamiya K, et al. Pharmacokinetics of omeprazole (a substrate of CYP2C19) and comparison with two mutant alleles, CYP2C19m1 in exon 5 and CYP2C19m2 in exon 4, in Japanese subjects. Clin Pharmacol Ther 1996; 59:647-653.
37. Inaba T, Jurima M, Nakano M, Kalow M. Mephenytoin and sparteine pharmacogenetics in Canadian Caucasians. Clin Pharmacol Ther 1984; 36:670-676.
38. Inoue K, Yamazaki H, Imiya K, Akasaka S, Guengerich FP, Shimada T. Relationship between CYP2C9 and 2C19 genotypes and tolbutamide methylhydroxylation and S-mephenytoin 4′-hydroxylation activities in livers of Japanese and Caucasian populations. Pharmacogenetics 1997; 7:103-113.
39. Jacqz E, Dulac H, Mathieu H. Phenotyping polymorphic drug metabolism in the French Caucasian population. Eur J Clin Pharmacol 1988; 35:167-171.
40. Jurima M, Inaba T, Kadar D, Kalow W. Genetic polymorphism of mephenytoin p(4′)-hydroxylation: difference between Orientals and Caucasians. Br J Clin Pharmacol 1985; 19:483-487.
41. Kiivet RA, Svensson J-O, Bertilsson L, Sjöqvist F. Polymorphism of debrisoquine and mephenytoin hydroxylation among Estonians. Pharmacol Toxicol 1993; 72:113-115.
42. Kortunay S, Basci NE, Bozkurt A, Isimer A, Sayal A, Kayaalp SO. The hydroxylation of omeprazole correlates with S-mephenytoin and proguanil metabolism. Eur J Clin Pharmacol 1997: 53:261-264.
43. Kubota T, Chiba K, Ishizaki T. Genotyping of S-mephenytoin 4′-hydroxylation in an extended Japanese population. Clin Pharmacol Ther 1996; 60:661-666.
44. Küpfer A, Preisig R. Pharmacogenetics of mephenytoin: a new drug hydroxylation polymorphism in man. Eur J Clin Pharmacol 1984; 26:753-759.
45. Llerena A, Herriz AG, Cobaleda J, Johansson I, Dahl M-L. Debrisoquine and mephenytoin hydroxylation phenotypes and CYP2D6 genotype in patients treated with neuroleptic and anti-depressant agents. Clin Pharmacol Ther 1993; 54:606-611.
46. Madsen H, Nielsen KK, Brøsen K. Imipramine metabolism in relation to the sparteine and mephenytoin oxidation polymorphisms: a population study. Br J Clin Pharmacol 1995; 39:433-439.
47. Marandi T, Dahl M-L, Kiivet RA, Rägo L, Sjöqvist F. Debrisoquine and S-mephenytoin hydroxylation phenotypes and CYP2D6 genotypes in an Estonian population. Pharmacol Toxicol 1996; 78:303-307.
48. Marandi T, Dahl M-L, Rägo L, Kiivet R, Sjöqvist F. Debrisoquine and S-mephenytoin hydroxylation polymorphisms in a Russian population living in Estonia. Eur J Clin Pharmacol 1997; 53:257-260.
49. Martin DE, Tran JQ, Flockhart DA, Jorkasky DK. Analysis of CYP2D6 and CYP2C19 genotypes in large African-American and Caucasian populations. Clin Pharmacol Ther 1998; 63:206.
50. May DG, Black CM, Olsen NJ, Csuka ME, Tanner SB, Bellino L, et al. Scleroderma is associated with differences in individual routes of drug metabolism: a study with dapsone, debrisoquin and mephenytoin. Clin Pharmacol Ther 1990; 48:286-295.
51. Nakamura K, Goto F, Ray WA, McAllister CB, Jacqz E, Wilkinson GR, Branch RA. Interethnic differences in genetic polymorphism of debrisoquin and mephenytoin hydroxylation between Japanese and Caucasian populations. Clin Pharmacol Ther 1985; 38:402-408.
52. Ohashi K, Furuta T, Kosuge K, Kimura M, Nishimoto M, Kaneko E, Ishizaki T. Disposition and effects of omeprazole are related to CYP2C19 genotype. Clin Pharmacol Ther 1998; 63:152.
53. Pollock BG, Perel JM, Kirshner M, Altieri LP, Yeager AL, Reynolds III CF, S-mephenytoin 4-hydroxylation in older Americans. Eur J Clin Pharmacol 1991; 40:609-611.
54. Reviriego J, Bertilsson L, Carrillo JA, Llerena A, Valdivielso MJ, Benítez J. Frequency of S-mephenytoin hydroxylation deficiency in 373 Spanish subjects compared to other Caucasian populations. Eur J Clin Pharmacol 1993; 44:593-595.
55. Roh H-K, Dahl M-L, Tybring G, Yamada H, Cha Y-N, Bertilsson L. CYP2C19 genotype and phenotype determined by omeprazole in a Korean population. Pharmacogenetics 1996; 6:547-551.
56. Romkes M, Faletto MB, Blaisdell JA, Raucy JL, Goldstein JA. Cloning and expression of complementary DNAs for multiple members of the human cytochrome P450 IIC subfamily. Biochemistry 1991; 30:3247-3255.
57. Ruas JL, Lechner MC. Allele frequency of CYP2C19 in a Portuguese population. Pharmacogenetics 1997; 7:333-335.
58. Sanz EJ, Villén T, Alm C, Bertilsson L. S-mephenytoin hydroxylation phenotypes in a Swedish population determined after coadministration with debrisoquin. Clin Pharmacol Ther 1989; 45:495-499.
59. Sarich T, Kalhorn T, Magee S, Al-Sayegh F, Adams S, Slattery J, et al. The effect of omeprazole pretreatment on acetaminophen metabolism in rapid and slow metabolizers of S-mephenytoin. Clin Pharmacol Ther 1997; 62:21-28.
60. Skjelbo E, Gram LF, Brøsen K. The N-demethylation of imipramine correlates with the oxidation of S-mephenytoin (S/R ratio): a population study. Br J Clin Pharmacol 1993; 35:331-334.
61. Takakubo F, Kuwano A, Kondo I. Evidence that poor metabolizers of (S)-mephenytoin could be identified by haplotypes of CYP2C19 in Japanese. Pharmacogenetics 1996; 6:265-267.
62. Tybring G, Bertilsson L. A methodological investigation on the estimation of S-mephenytoin hydroxylation phenotype using the urinary S/R ratio. Pharmacogenetics 1992; 2:241-243.
63. Vogel F, Motulsky AG. Human genetics. Problem and approaches. 2nd ed. Berlin: Springer-Verlag; 1986.
64. Wedlund PJ, Aslanian WS, McAllister CB, Wilkinson GR, Branch RA. Mephenytoin hydroxylation deficiency in Caucasians: frequency of a new oxidative drug metabolism polymorphism. Clin Pharmacol Ther 1984; 36:773-780.
65. Wedlund PJ, Wilkinson GR. In vivo and in vitro measurement of CYP2C19 activity. Methods Enzymol 1996; 272:105-114.
66. Wilkinson GR, Guengerich FP, Branch RA. Genetic polymorphism of S-mephenytoin hydroxylation. Pharmacol Ther 1989; 43:53-76.
67. Wood AJJ. Zhou HH. Ethnic differences in drug disposition and responsiveness. Clin Pharmacokinet 1991; 20:350-373.
68. Wrighton SA, Stevens JC, Becker GW, VandenBranden M. Isolation and characterization of human liver cytochrome P450 2C19: correlation between 2C19 and S-mephenytoin 4′-hydroxylation. Arch Biochem Biophys 1993; 306:240-245.
69. Xiao Z-S, Goldstein JA, Xie H-G, Blaisdell J, Wang W, Jiang C-H, et al. Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele. J Pharmacol Exp Ther 1997; 281:604-609.
70. Xie H-G. Direct evidence for the higher frequency of CYP2C19 allelic heterozygotes in Chinese subjects than in white subjects. Clin Pharmacol Ther 1997; 62:691-692.
71. Xie H-G. How to correctly calculate the proportions of the heterozygotes and homozygotes in the extensive metabolizers of a certain drug-metabolizing enzyme in an ethnic or racial population? Clin Pharmacol Ther 1998; 64:575.
72. Xie H-G, Xhou H-H, Proceedings of Medical Sciences of China in 1996; Pharmacogenetics. Natl Med J China 1997; 77:77-78.
73. Xie H-G, Xu Z-H, Luo X, Huang S-L, Zeng F-D, Zhou H-H, Genetic polymorphisms of debrisoquine and S-mephenytoin oxidation metabolism in Chinese populations: a meta-analysis. Pharmacogenetics 1996; 6:235-238.
74. Xie H-G, Xu Z-H, Ou-Yang D-S, Shu Y, Yang D-L, Wang J-S, et al. Meta-analysis of phenotype and genotype of NAT2 deficiency in Chinese populations. Pharmacogenetics 1997; 7:503-514.
75. Yamada H, Dahl M-L, Lannfelt L, Vitainen M, Winblad B, Sjöqvist F. CYP2D6 and CYP2C19 genotypes in an elderly Swedish population. Eur J Clin Pharmacol 1998; 54:479-481.
76. Zhang Y, Reviriego J, Lou Y-Q, Sjöqvist F, Bertilsson L. Diazepam metabolism in native Chinese poor and extensive hydroxylators of S-mephenytoin: interethnic differences in comparison with white subjects. Clin Pharmacol Ther 1990; 48:496-502.
77. Zhang Y, Blouin RA, McNamara PJ, Steinmetz J, Wedlund PJ. Limitation of the use of urinary S-/R-mephenytoin ratio in pharmacogenetic studies. Br J Clin Pharmacol 1991; 31:350-352.