Genotype-phenotype variability in human CYP3A locus in nepalese people residing in bangladesh

International Journal of Clinical Pharmacology and Therapeutics

Volumn 51, Issue 3, 2013, Pages 207-214

  Hassan, Rajib ^a   Ameen, Syeda Sadia ^a   Maruf, Abdullah Al ^a   Nandini, Ananna ^b   Tabin, Humayra ^b   Ahmed, Maizbha Uddin ^a   Islam, Mohammad Safiqul ^a   Sayeed, Muhammad Shahdaat Bin ^a   Hasnat, Abul ^a  

^a UNIVERSITY OF DHAKA   (Bangladesh)

^b UNIVERSITY OF ASIA PACIFIC   (Bangladesh)

Author keywords

CYP3A; Genotypes; Nepalese; PCR RFLP; Phenotypes

Indexed keywords

6BETA HYDROXYHYDROCORTISONE; CYTOCHROME P450 3A; CYTOCHROME P450 3A4; CYTOCHROME P450 3A5; GENOMIC DNA; HYDROCORTISONE;

ADULT; ARTICLE; ASIAN; BANGLADESH; DNA SEQUENCE; ETHNIC GROUP; GEL ELECTROPHORESIS; GENE FREQUENCY; GENOTYPE PHENOTYPE CORRELATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; NEPALESE; NORMAL HUMAN; POLYMERASE CHAIN REACTION; URINALYSIS;

ADULT; ALLELES; BANGLADESH; CYTOCHROME P-450 CYP3A; GENOTYPE; HUMANS; HYDROCORTISONE; MALE; NEPAL; PHENOTYPE;

EID: 84874715985     PISSN: 09461965     EISSN: None     Source Type: Journal    
DOI: 10.5414/CP201831     Document Type: Article

References (48)

1. Kalow W. Pharmacogenetics: heredity and the response to drugs. Philadelphia: W.B. Saunders; 1962.
2. Evans DAP. Genetic factors in drug therapy: clinical and molecular pharmacogenetics. Cambridge: Cambridge University Press; 1993.
3. Dandara C, Masimirembwa CM, Magimba A, Sayi J, Kaaya S, Sommers DK, Snyman JR, Hasler JA. Genetic polymorphism of CYP2D6 and CYP2C19 in east-and southern African populations including psychiatric patients. Eur J Clin Pharmacol. 2001; 57: 11-17. doi:10.1007/s002280100282 PubMed
4. Nebert DW, Gonzalez FJ. P450 genes: structure, evolution, and regulation. Annu Rev Biochem. 1987; 56: 945-993. doi:10.1146/annurev. bi.56.070187.004501 PubMed
5. Eichelbaum M, Burk O. CYP3A genetics in drug metabolism. Nat Med. 2001; 7: 285-287. doi:10.1038/85417 PubMed
6. Furuta T, Suzuki A, Mori C, Shibasaki H, Yokokawa A, Kasuya Y. Evidence for the validity of cortisol 6 β-hydroxylation clearance as a new index for in vivo cytochrome P450 3A phenotyping in humans. Drug Metab Dispos. 2003; 31: 1283-1287. doi:10.1124/dmd.31.11.1283 PubMed
7. Rais N, Chawla YK, Kohli KK. CYP3A phenotypes and genotypes in North Indians. Eur J Clin Pharmacol. 2006; 62: 417-422. doi:10.1007/s00228-006-0105-3 PubMed
8. Fukuen S, Fukuda T, Maune H, Ikenaga Y, Yamamoto I, Inaba T, Azuma J. Novel detection assay by PCR-RFLP and frequency of the CYP3A5 SNPs, CYP3A53 and 6, in a Japanese population. Pharmacogenetics. 2002; 12: 331-334. doi:10.1097/00008571-200206000-00009 PubMed
9. Eiselt R, Domanski TL, Zibat A, Mueller R, Presecan-Siedel E, Hustert E, Zanger UM, Brockmoller J, Klenk HP, Meyer UA, Khan KK, He YA, Halpert JR, Wojnowski L. Identification and functional characterization of eight CYP3A4 protein variants. Pharmacogenetics. 2001; 11: 447-458. doi:10.1097/00008571- 200107000-00008 PubMed
10. Hustert E, Haberl M, Burk O, Wolbold R, He YQ, Klein K, Nuessler AC, Neuhaus P, Klattig J, Eiselt R, Koch I, Zibat A, Brockmöller J, Halpert JR, Zanger UM, Wojnowski L. The genetic determinants of the CYP3A5 polymorphism. Pharmacogenetics. 2001; 11: 773-779. doi:10.1097/00008571-200112000-00005 PubMed
11. Rebbeck TR, Jaffe JM, Walker AH, Wein AJ, Malkowicz S. B. Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J Natl Cancer Inst. 1999; 190: 1225-1229.
12. Hsieh KP, Lin YY, Cheng CL, Lai ML, Lin MS, Siest JP, Huang JD. Novel mutations of CYP3A4 in Chinese. Drug Metab Dispos. 2000; 29: 268-273.
13. Dai Y, Iwanaga K, Lin YS, Hebert MF, Davis CL, Huang W, Kharasch ED, Thummel KE. In vitro metabolism of cyclosporine A by human kidney CYP3A5. Biochem Pharmacol. 2004; 68: 1889-1902. doi:10.1016/j.bcp.2004.07.012 PubMed
14. Chowbay B, Cumaraswamy S, Cheung YB, Zhou Q, Lee EJ. Genetic polymorphisms in MDR1 and CYP3A4 genes in Asians and the influence of MDR1 haplotypes on cyclosporin disposition in heart transplant recipients. Pharmacogenetics. 2003; 13: 89-95. doi:10.1097/00008571-200302000-00005 PubMed
15. Balram C, Zhou Q, Cheung YB, Lee EJ. CYP3A5 3 and 6 single nucleotide polymorphisms in three distinct Asian populations. Eur J Clin Pharmacol. 2003; 59: 123-126. PubMed
16. Kuehl P, Zhang J, Lin Y, Lamba J, Assem M, Schuetz J, Watkins PB, Daly A, Wrighton SA, Hall SD, Maurel P, Relling M, Brimer C, Yasuda K, Venkataramanan R, Strom S, Thummel K, Boguski MS, Schuetz E. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nat Genet. 2001; 27: 383-391. doi:10.1038/86882 PubMed
17. Ged C, Rouillon JM, Pichard L, Combalbert J, Bressot N, Bories P, Michel H, Beaune P, Maurel P. The increase in urinary excretion of 6 beta-hydroxycortisol as a marker of human hepatic cytochrome P450IIIA induction. Br J Clin Pharmacol. 1989; 28: 373-387. doi:10.1111/j.1365-2125.1989. tb03516.x PubMed
18. Hunt CM, Watkins PB, Saenger P, Stave GM, Barlascini N, Watlington CO, Wright JT Jr., Guzelian PS. Heterogeneity of CYP3A isoforms metabolizing erythromycin and cortisol. Clin Pharmacol Ther. 1992; 51: 18-23. doi:10.1038/clpt.1992.3 PubMed
19. Watkins PB, Turgeon DK, Saenger P, Lown KS, Kolars JC, Hamilton T, Fishman K, Guzelian PS, Voorhees JJ. Comparison of urinary 6-beta-cortisol and the erythromycin breath test as measures of hepatic P450IIIA (CYP3A) activity. Clin Pharmacol Ther. 1992; 52: 265-273. doi:10.1038/clpt.1992.140 PubMed
20. Yu KS, Cho JY, Shon JH, Bae KS, Yi SY, Lim HS, Jang IJ, Shin SG. Ethnic differences and relationships in the oral pharmacokinetics of nifedipine and erythromycin. Clin Pharmacol Ther. 2001; 70: 228-236. doi:10.1067/mcp.2001. 117703 PubMed
21. Kinirons MT, O'Shea D, Kim RB, Groopman JD, Thummel KE, Wood AJ, Wilkinson GR. Failure of erythromycin breath test to correlate with midazolam clearance as a probe of cytochrome P4503A. Clin Pharmacol Ther. 1999; 66: 224-231. doi:10.1016/S0009-9236(99)70029-9 PubMed
22. Kashuba AD, Bertino JS Jr., Rocci ML Jr., Kulawy RW, Beck DJ, Nafziger AN. Quantification of 3-month intraindividual variability and the influence of sex and menstrual cycle phase on CYP3A activity as measured by phenotyping with intravenous midazolam. Clin Pharmacol Ther. 1998; 64: 269-277. doi:10.1016/S0009-9236(98)90175-8 PubMed
23. Kharasch ED, Jubert C, Senn T, Bowdle TA, Thummel KE. Intraindividual variability in male hepatic CYP3A4 activity assessed by alfentanil and midazolam clearance. J Clin Pharmacol. 1999; 9: 664-669. doi:10.1177/00912709922008290
24. Rodríguez-Antona C, Sayi JG, Gustafsson LL, Bertilsson L, Ingelman-Sundberg M. Phenotypegenotype variability in the human CYP3A locus as assessed by the probe drug quinine and analyses of variant CYP3A4 alleles. Biochem Biophys Res Commun. 2005; 338: 299-305. doi:10.1016/j. bbrc.2005.09.020 PubMed
25. Uejima E, Takahashi K, Morisaki T, Takahashi K, Ohno M, Nishida Y, Moriya M, Kaido M, Abe K, Sakoda S, Yanagihara T, Kurokawa N, Azuma J. Microsomal enzyme induction and clinical aggravation of porphyria: the evaluation of human urinary 6beta-hydroxycortisol/cortisol ratio as the index of hepatic CYP3A4 activity. J Clin Pharmacol. 2002; 42: 1374-1379. doi:10.1177/0091270002042012012 PubMed
26. El Desoky ES, Mohamed HO, Farghaly WMA, Bakheet MY, Hedaya MA, Siest J-P. Study of urinary 6β-hydroxycortisol/cortisol ratio in spot urine samples as a biomarker of 3A4 enzyme activity in healthy and epileptic subjects of Egyptian population. Pharmacol Res. 2005; 51: 575-580. PubMed doi:10.1016/j.phrs.2005.02.014
27. Yeo KP, Lowe SL, Lim MT, Voelker JR, Burkey JL, Wise SD. Pharmacokinetics of ruboxistaurin are significantly altered by rifampicin-mediated CYP3A4 induction. Br J Clin Pharmacol. 2006; 61: 200-210. doi:10.1111/j.1365-2125.2005. 02540.x PubMed
28. Maruf AA, Ahmed MU, Yasmin H, Ullah MA, Azad MAK, Daly AK, Hasnat A. Genotypes and phenotypes of CYP3A in Bangladeshi population. Clin Chim Acta. 2011; 412: 531-536. doi:10.1016/j.cca.2010.11.031 PubMed
29. Chen Z, Dunning LA, Anderson KE, Holtzman JL, Zheng W. Within-person variability of urinary 6beta-hydroxycortisol to urinaryl ratios in Caucasian women. Steroids. 2004; 69: 67-70. doi:10.1016/j.steroids.2003.10.004 PubMed
30. Tran JQ, Kovacs SJ, McIntosh TS, Davis HM, Martin DE. Morning spot and 24-hour urinary 6 β-hydroxycortisol to cortisol ratios: intraindividual variability and correlation under basal conditions and conditions of CYP 3A4 induction. J Clin Pharmacol. 1999; 39: 487-494. PubMed
31. Yin OQP, Shi X, Tomlinson B, Chow MS. Interindividual and intraindividual variability of the urinary 6beta-Hydroxycortisol/Cortisol ratio in Chinese subjects: implications of its use for evaluating CYP3A activity. J Clin Pharmacol. 2004; 44: 1412-1417. doi:10.1177/0091270004269760 PubMed
32. Lin YS, Lockwood GF, Graham MA, Brian WR, Loi CM, Dobrinska MR, Shen DD, Watkins PB, Wilkinson GR, Kharasch ED, Thummel KE. Invivo phenotyping for CYP3A by a single-point determination of midazolam plasma concentration. Pharmacogenetics. 2001; 11: 781-791. doi:10.1097/00008571-200112000-00006 PubMed
33. Inagaki K, Inagaki M, Kataoka T, Sekido I, Gill MA, Nishida M. A wide interindividual variability of urinary 6β-hydroxycortisol to free cortisol in 487 healthy Japanese subjects in near basal condition. Ther Drug Monit. 2002; 24: 722-727. doi:10.1097/00007691-200212000-00007 PubMed
34. Zhu B, Liu ZQ, Chen GL, Chen XP, Ou-Yang DS, Wang LS, Huang SL, Tan ZR, Zhou HH. The distribution and gender difference of CYP3A activity in Chinese subjects. Br J Clin Pharmacol. 2003; 55: 264-269. doi:10.1046/j.1365-2125.2003. 01728.x PubMed
35. King BP, Leathart JBS, Mutch E, Williams FM, Daly A. K. CYP3A5 phenotype-genotype correlations in a British population. Br J Clin Pharmacol. 2002; 55: 625-629. doi:10.1046/j.1365-2125.2003.01798.x
36. Gebeyehu E, Engidawork E, Bijnsdorp A, Aminy A, Diczfalusy U, Aklillu E. Sex and CYP3A5 genotype influence total CYP3A activity: high CYP3A activity and a unique distribution of CYP3A5 variant alleles in Ethiopians. Pharmacogenomics J. 2011; 11: 130-137. doi:10.1038/tpj.2010.16 PubMed
37. Ball SE, Scatina J, Kao J, Ferron GM, Fruncillo R, Mayer P, Weinryb I, Guida M, Hopkins PJ, Warner N, Hall J. Population distribution and effects on drug metabolism of a genetic variant in the 5' promoter region of CYP3A4. Clin Pharmacol Ther. 1999; 66: 288-294. doi:10.1016/S0009-9236(99)70037-8 PubMed
38. Sata F, Sapone A, Elizondo G, Stocker P, Miller VP, Zheng W, Raunio H, Crespi CL, Gonzalez FJ. CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: evidence for an allelic variant with altered catalytic activity. Clin Pharmacol Ther. 2000; 67: 48-56. doi:10.1067/mcp.2000.104391 PubMed
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. PubMed
40. Hu YF, He J, Chen GL, Wang D, Liu ZQ, Zhang C, Duan LF, Zhou HH. CYP3A53 and CYP3A4 18 single nucleotide polymorphisms in a Chinese population. Clin Chim Acta. 2005; 353: 187-192. doi:10.1016/j.cccn.2004.11.005 PubMed
41. Ruzilawati AB, Suhaimi AW, Gan SH. Genetic polymorphisms of CYP3A4: CYP3A418 allele is found in five healthy Malaysian subjects. Clin Chim Acta. 2007; 383: 158-162. doi:10.1016/j. cca.2007.05.004 PubMed
42. Dai D, Tang J, Rose R, Hodgson E, Bienstock RJ, Mohrenweiser HW, Goldstein JA. Identification of variants of CYP3A4 and characterization of their abilities to metabolize testosterone and chlorpyrifos. J Pharmacol Exp Ther. 2001; 299: 825-831. PubMed
43. Lamba JK, Lin YS, Thummel K, Daly A, Watkins PB, Strom S, Zhang J, Schuetz EG. Common allelic variants of cytochrome P4503A4 and their prevalence in different populations. Pharmacogenetics. 2002; 12: 121-132. doi:10.1097/00008571-200203000-00006 PubMed
44. Semiz S, Dujić T, Ostanek B et al. Analysis of CYP3A41B and CYP3A53 polymorphisms in population of Bosnia and Herzegovina. Med Glas Ljek komore Zenicko-doboj kantona. 2011; 8: 84-89.
45. Lykkesfeldt J, Loft S, Poulsen HE. Simultaneous determination of urinary free cortisol and 6β-hydroxycortisol by high-performance liquid chromatography to measure human CYP3A activity. J Chromatogr B Analyt Technol Biomed Life Sci. 1994; 660: 23-29. doi:10.1016/0378-4347(94)00265-7
46. Daly AK, Monkman SC, Smart J, Steward A, Cholerton S. Analysis of cytochrome P450 polymorphisms. Methods Mol Biol. 1998; 107: 405-422. PubMed
47. Kleinbloesem CH, van Brummelen P, Faber H, Danhof M, Vermeulen NPE, Breimer DD. Variability in nifedipine pharmacokinetics and dynamics: A new oxidation polymorphism in man. Biochem Pharmacol. 1984; 3: 3721-3724. doi:10.1016/0006-2952(84)90165-5
48. Schellens JHM, Soons PA, Breimer DD. Lack of bimodality in nifedipine plasma kinetics in a large population of healthy subjects. Biochem Pharmacol. 1988; 37: 2507-2510. doi:10.1016/0006-2952(88)90238-9 PubMed