Sex and CYP3A5 genotype influence total CYP3A activity: High CYP3A activity and a unique distribution of CYP3A5 variant alleles in Ethiopians

Pharmacogenomics Journal

Volumn 11, Issue 2, 2011, Pages 130-137

  Gebeyehu, E ^a   Engidawork, E ^a   Bijnsdorp, A ^b   Aminy, A ^b   Diczfalusy, U ^b   Aklillu, E ^b  

^a ADDIS ABABA UNIVERSITY   (Ethiopia)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

CYP3A5 genotype; Ethiopians; omeprazole; phenotype; sex

Indexed keywords

4BETA HYDROXYCHOLESTEROL; CHOLESTEROL; CHOLESTEROL DERIVATIVE; CYTOCHROME P450 3A; CYTOCHROME P450 3A5; OMEPRAZOLE; OMEPRAZOLE SULFONE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CONTROLLED STUDY; DRUG BLOOD LEVEL; DRUG METABOLISM; ENZYME ACTIVITY; ETHIOPIA; FEMALE; GAS CHROMATOGRAPHY; GENE DOSAGE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN EXPERIMENT; MALE; MASS SPECTROMETRY; NORMAL HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX DIFFERENCE; SULFOXIDATION; VOLUNTEER;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; CHOLESTEROL; CYTOCHROME P-450 CYP3A; ETHIOPIA; FEMALE; GENETIC VARIATION; GENOTYPE; HUMANS; HYDROXYCHOLESTEROLS; MALE; OMEPRAZOLE; SEX FACTORS; YOUNG ADULT;

EID: 79953042676     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/tpj.2010.16     Document Type: Article

References (41)

1. Westlind A, Malmebo S, Johansson I, Otter C, Andersson TB, Ingelman-Sundberg M et al. Cloning and tissue distribution of a novel human cytochrome p450 of the CYP3A subfamily, CYP3A43. Biochem Biophys Res Commun 2001; 281: 1349-1355. (Pubitemid 32924568)
2. Stevens JC, Hines RN, Gu C, Koukouritaki SB, Manro JR, Tandler PJ et al. Developmental expression of the major human hepatic CYP3A enzymes. J Pharmacol Exp Ther 2003; 307: 573-582. (Pubitemid 37310671)
3. Burk O, Tegude H, Koch I, Hustert E, Wolbold R, Glaeser H et al. Molecular mechanisms of polymorphic CYP3A7 expression in adult human liver and intestine. J Biol Chem 2002; 277: 24280-24288. (Pubitemid 34951946)
4. Lamba JK, Lin YS, Schuetz EG, Thummel KE. Genetic contribution to variable human CYP3A-mediated metabolism. Adv Drug Deliv Rev 2002; 54: 1271-1294. (Pubitemid 35284253)
5. Daly AK. Significance of the minor cytochrome P450 3A isoforms. Clin Pharmacokinet 2006; 45: 13-31. (Pubitemid 43145013)
6. Williams ML, Wainer IW. Genotype/phenotype comparisons: a probe for the effect of disease progression on drug metabolism. Curr Opin Drug Discov Devel 2002; 5: 144-149. (Pubitemid 34453252)
7. Bottiger Y. Use of omeprazole sulfone in a single plasma sample as a probe for CYP3A4. Eur J Clin Pharmacol 2006; 62: 621-625. (Pubitemid 44127990)
8. Diczfalusy U, Miura J, Roh HK, Mirghani RA, Sayi J, Larsson H et al. 4beta-Hydroxycholesterol is a new endogenous CYP3A marker: relationship to CYP3A5 genotype, quinine 3-hydroxylation and sex in Koreans, Swedes and Tanzanians. Pharmacogenet Genomics 2008; 18: 201-208. (Pubitemid 351323234)
9. Cotreau MM, von Moltke LL, Greenblatt DJ. The influence of age and sex on the clearance of cytochrome P450 3A substrates. Clin Pharmacokinet 2005; 44: 33-60. (Pubitemid 40100551)
10. Meibohm B, Beierle I, Derendorf H. How important are gender differences in pharmacokinetics? Clin Pharmacokinet 2002; 41: 329-342. (Pubitemid 34713088)
11. Wolbold R, Klein K, Burk O, Nussler AK, Neuhaus P, Eichelbaum M et al. Sex is a major determinant of CYP3A4 expression in human liver. Hepatology 2003; 38: 978-988. (Pubitemid 37221681)
12. Kuehl P, Zhang J, Lin Y, Lamba J, Assem M, Schuetz J 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)
13. Mirghani RA, Sayi J, Aklillu E, Allqvist A, Jande M, Wennerholm A et al. CYP3A5 genotype has significant effect on quinine 3-hydroxylation in Tanzanians, who have lower total CYP3A activity than a Swedish population. Pharmacogenet Genomics 2006; 16: 637-645. (Pubitemid 44223075)
14. Watkins PB. Erythromycin breath test and clinical transplantation. Ther Drug Monit 1996; 18: 368-371. (Pubitemid 26264651)
15. Wrighton SA, Brian WR, Sari MA, Iwasaki M, Guengerich FP, Raucy JL et al. Studies on the expression and metabolic capabilities of human liver cytochrome P450IIIA5 (HLp3). Mol Pharmacol 1990; 38: 207-213. (Pubitemid 20255306)
16. Wojnowski L, Turner PC, Pedersen B, Hustert E, Brockmoller J, Mendy M et al. Increased levels of aflatoxin-albumin adducts are associated with CYP3A5 polymorphisms in The Gambia, West Africa. Pharmacogenetics 2004; 14: 691-700. (Pubitemid 39411269)
17. Aklillu E, Dandara C, Bertilsson L, Masimirembwa C. Pharmacogenetics of cytochrome P450s in African populations: clinical and molecular evolutionary implications. In: Suarez-Kurtz G (ed). Pharmacogenomics in Admixed Populations. Landes Bioscience: Austin, TX, USA, 2007, pp 99-119.
18. Matimba A, Del-Favero J, Van Broeckhoven C, Masimirembwa C. Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects. Hum Genomics 2009; 3: 169-190.
19. Chang M, Dahl ML, Tybring G, Gotharson 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 1995; 5: 358-363. (Pubitemid 26011441)
20. Bodin K, Bretillon L, Aden Y, Bertilsson L, Broome U, Einarsson C et al. Antiepileptic drugs increase plasma levels of 4beta-hydroxycholesterol in humans: evidence for involvement of cytochrome p450 3A4. J Biol Chem 2001; 276: 38685-38689.
21. Cavalli-Sforza LL, Menozzi P, Piazza A. The History and Geography of Human Genes. Princeton University press: Princeton, NJ, 1994.
22. Aklillu E, Persson I, Bertilsson L, Johansson I, Rodrigues F, Ingelman-Sundberg M. Frequent distribution of ultrarapid metabolizers of debrisoquine in an ethiopian population carrying duplicated and multiduplicated functional CYP2D6 alleles. J Pharmacol Exp Ther 1996; 278: 441-446. (Pubitemid 27167124)
23. Persson I, Aklillu E, Rodrigues F, Bertilsson L, Ingelman-Sundberg M. S-mephenytoin hydroxylation phenotype and CYP2C19 genotype among Ethiopians. Pharmacogenetics 1996; 6: 521-526. (Pubitemid 27032304)
24. Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M, Santachiara-Benerecetti AS. Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms. Am J Hum Genet 1998; 62: 420-434. (Pubitemid 28110785)
25. Lovell A, Moreau C, Yotova V, Xiao F, Bourgeois S, Gehl D et al. Ethiopia: between Sub-Saharan Africa and western Eurasia. Ann Hum Genet 2005; 69: 275-287. (Pubitemid 40613729)
26. Poloni ES, Naciri Y, Bucho R, Niba R, Kervaire B, Excoffier L et al. Genetic evidence for complexity in ethnic differentiation and history in East Africa. Ann Hum Genet 2009; 73: 582-600.
27. Kivisild T, Reidla M, Metspalu E, Rosa A, Brehm A, Pennarun E et al. Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the gate of tears. Am J Hum Genet 2004; 75: 752-770. (Pubitemid 39390485)
28. Ghotbi R, Gomez A, Milani L, Tybring G, Syvanen AC, Bertilsson L et al. Allele-specific expression and gene methylation in the control of CYP1A2 mRNA level in human livers. Pharmacogenomics J 2009; 9: 208-217.
29. Sugimoto K, Uno T, Tateishi T. Effects of the CYP3A5 genotype on omeprazole sulfoxidation in CYP2C19 PMs. Eur J Clin Pharmacol 2008; 64: 583-587.
30. Kanebratt KP, Diczfalusy U, Backstrom T, Sparve E, Bredberg E, Bottiger Y et al. Cytochrome P450 induction by rifampicin in healthy subjects: determination using the Karolinska cocktail and the endogenous CYP3A4 marker 4-beta-hydroxycholesterol. Clin Pharmacol Ther 2008; 84: 589-594.
31. Wide K, Larsson H, Bertilsson L, Diczfalusy U. Time course of the increase in 4-beta-hydroxycholesterol concentration during carbamazepine treatment of paediatric patients with epilepsy. Br J Clin Pharmacol 2008; 65: 708-715. (Pubitemid 351535081)
32. Diczfalusy U, Kanebratt KP, Bredberg E, Andersson TB, Bottiger Y, Bertilsson L. 4-beta-hydroxycholesterol as an endogenous marker for CYP3A4/5 activity. Stability and half-life of elimination after induction with rifampicin. Br J Clin Pharmacol 2009; 67: 38-43.
33. Bodin K, Andersson U, Rystedt E, Ellis E, Norlin M, Pikuleva I et al. Metabolism of 4-beta-hydroxycholesterol in humans. J Biol Chem 2002; 277: 31534-31540.
34. Marschall HU, Wagner M, Zollner G, Fickert P, Diczfalusy U, Gumhold J et al. Complementary stimulation of hepatobiliary transport and detoxification systems by rifampicin and ursodeoxycholic acid in humans. Gastroenterology 2005; 129: 476-485. (Pubitemid 41096635)
35. Josephson F, Bertilsson L, Bottiger Y, Flamholc L, Gisslen M, Ormaasen V et al. CYP3A induction and inhibition by different antiretroviral regimens reflected by changes in plasma 4beta-hydroxycholesterol levels. Eur J Clin Pharmacol 2008; 64: 775-781.
36. Lutjohann D, Marinova M, Schneider B, Oldenburg J, von Bergmann K, Bieber T et al. 4-beta-hydroxycholesterol as a marker of CYP3A4 inhibition in vivo-effects of itraconazole in man. Int J Clin Pharmacol Ther 2009; 47: 709-715.
37. Tomalik-Scharte D, Lutjohann D, Doroshyenko O, Frank D, Jetter A, Fuhr U. Plasma 4-beta-hydroxycholesterol: an endogenous CYP3A metric? Clin Pharmacol Ther 2009; 86: 147-153.
38. Tomalik-Scharte D, Doroshyenko O, Kirchheiner J, Jetter A, Lazar A, Klaassen T et al. No role for the CYP3A5*3 polymorphism in intestinal and hepatic metabolism of midazolam. Eur J Clin Pharmacol 2008; 64: 1033-1035.
39. Jochemsen R, van Rijn PA, Hazelzet TG, van Boxtel CJ, Breimer DD. Comparative pharmacokinetics of midazolam and loprazolam in healthy subjects after oral administration. Biopharm Drug Dispos 1986; 7: 53-61. (Pubitemid 16155184)
40. Kinirons MT, O'Shea D, Kim RB, Groopman JD, Thummel KE, Wood AJ et al. Failure of erythromycin breath test to correlate with midazolam clearance as a probe of cytochrome P4503A. Clin Pharmacol Ther 1999; 66: 224-231. (Pubitemid 29451753)
41. Chen JS, Li LS, Cheng DR, Ji SM, Sun QQ, Cheng Z et al. Effect of CYP3A5 genotype on renal allograft recipients treated with tacrolimus. Transplant Proc 2009; 41: 1557-1561.