Genetic polymorphisms of drug-metabolizing phase I enzymes CYP2E1, CYP2A6 and CYP3A5 in South Indian population

Fundamental and Clinical Pharmacology

Volumn 26, Issue 2, 2012, Pages 295-306

  Krishnakumar, D ^a   Gurusamy, Umamaheswaran ^a   Dhandapani, Kayathri ^a   Surendiran, A ^a   Baghel, Ruchi ^b   Kukreti, Ritushree ^b   Gangadhar, Reneega ^c   Prayaga, Ushakiran ^d   Manjunath, S ^e   Adithan, C ^a  

^a JAWAHARLAL INSTITUTE OF POSTGRADUATE MEDICAL EDUCATION AND RESEARCH   (India)

^b CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^c GOVERNMENT MEDICAL COLLEGE   (India)

^d Rangaraya Medical College   (India)

^e M R MEDICAL COLLEGE   (India)

Author keywords

CYP2A6; CYP2E1; CYP3A5; Genotype; Phase I enzymes; South Indian

Indexed keywords

CYTOCHROME P450 2A6; CYTOCHROME P450 2E1; CYTOCHROME P450 3A5;

ADULT; ALLELE; ARTICLE; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN EXPERIMENT; INDIA; MALE; NORMAL HUMAN; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADOLESCENT; ADULT; ALLELES; ARYL HYDROCARBON HYDROXYLASES; CYTOCHROME P-450 CYP2E1; CYTOCHROME P-450 CYP3A; ETHNIC GROUPS; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INDIA; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; YOUNG ADULT;

EID: 84858076807     PISSN: 07673981     EISSN: 14728206     Source Type: Journal    
DOI: 10.1111/j.1472-8206.2010.00917.x     Document Type: Article

References (76)

1. Woolf T.F. Handbook of drug metabolism, Marcel Dekker, New York, 1999.
2. Guengerich F.P., Kim D.H., Iwasaki M. Role of human cytochrome P-450 IIE1 in the oxidation of many low molecular weight cancer suspects. Chem. Res. Toxicol. (1991) 4 168-179.
3. Surbrook S.E. Jr, Olson M.J. Dominant role of cytochrome P-450 2E1 in human hepatic microsomal oxidation of the CFC-substitute 1, 1, 1, 2-tetrafluoroethane. Drug Metab. Dispos. (1992) 20 518-524.
4. Peter R., Böcker R., Beaune P.H., Iwasaki M., Guengerich F.P., Yang C.S. Hydroxylation of chlorzoxazone as a specific probe for human liver cytochrome P-450IIE1. Chem. Res. Toxicol. (1990) 3 566-573.
5. Kharasch E.D., Thummel K.E. Identification of cytochrome P450 2E1 as the predominant enzyme catalyzing human liver microsomal defluorination of sevoflurane, isoflurane, and methoxyflurane. Anesthesiology (1993) 79 795-807.
6. Cai L., Yu S.Z., Zhan Z.F. Cytochrome P450 2E1 genetic polymorphism and gastric cancer in Changle, Fujian Province. World J. Gastroenterol. (2001) 7 792-795.
7. Okamoto K., Murawaki Y., Yuasa I., Kawasaki H. Effect of ALDH2 and CYP2E1 gene polymorphisms on drinking behavior and alcoholic liver disease in Japanese male workers. Alcohol. Clin. Exp. Res. (2001) 25 19S-23S.
8. Quinones L., Lucas D., Godoy J. et al. CYP1A1, CYP2E1 and GSTM1 genetic polymorphisms. The effect of single and combined genotypes on lung cancer susceptibility in Chilean people. Cancer Lett. (2001) 174 35-44.
9. Ronis M.J.J., Lindros K.O., Ingelman-Sundberg M. The cytochrome P4502E subfamily, in cytochromes P450, in: Ionnides I. (Ed), Pharmacological and toxicological aspects, CRC Press, Boca Raton, FL, 1996, pp. 211-239.
10. Pearce R., Greenway D., Parkinson A. Species differences and interindividual variation in liver microsomal cytochrome P450 2A enzymes: effects on coumarin, dicumarol, and testosterone oxidation. Arch. Biochem. Biophys. (1992) 298 211-225.
11. Torchin C.D., McNeilly P.J., Kapetanovic I.M., Strong J.M., Kupferberg H.J. Stereoselective metabolism of a new anticonvulsant drug candidate, losigamone, by human liver microsomes. Drug Metab. Dispos. (1996) 24 1002-1008.
12. Spracklin D.K., Kharasch E.D. Human halothane reduction in-vitro by cytochrome P450 2A6 and 3A4: identification of low and high KM isoforms. Drug Metab. Dispos. (1998) 26 605-607.
13. Kharasch E.D., Hankins D.C., Fenstamaker K., Cox K. Human halothane metabolism, lipid peroxidation, and cytochromes P(450)2A6 and P(450)3A4. Eur. J. Clin. Pharmacol. (2000) 55 853-859.
14. Murphy S.E., Johnson L.M., Pullo D.A. Characterization of multiple products of cytochrome P450 2A6-catalyzed cotinine metabolism. Chem. Res. Toxicol. (1999) 12 639-645.
15. Yamazaki H., Inui Y., Yun C.H., Guengerich F.P., Shimada T. Cytochrome P450 2E1 and 2A6 enzymes as major catalysts for metabolic activation of N-nitrosodialkylamines and tobacco-related nitrosamines in human liver microsomes. Carcinogenesis (1992) 13 1789-1794.
16. Law M.R., Morris J.K., Watt H.C., Wald N.J. The dose-response relationship between cigarette consumption, biochemical markers and risk of lung cancer. Br. J. Cancer (1997) 75 1690-1693.
17. Miyamoto M., Umetsu Y., Akita D.H. et al. CYP2A6 gene deletion reduces susceptibility to lung cancer. Biochem. Biophys. Res. Commun. (1999) 261 658-660.
18. Nakajima M., Kwon J.T., Tanaka N. et al. Relationship between interindividual differences in nicotine metabolism and CYP2A6 genetic polymorphism in humans. Clin. Pharmacol. Ther. (2001) 69 72-78.
19. Yoshida R., Nakajima M., Watanabe Y., Kwon J.T., Yokoi T. Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism. Br. J. Clin. Pharmacol. (2002) 54 511-517.
20. Gellner K., Eiselt R., Hustert E. et al. Genomic organization of the human CYP3A locus: identification of a new, inducible CYP3A gene. Pharmacogenetics (2001) 11 111-121.
21. Finta C., Zaphiropoulos P.G. The human cytochrome P450 3A locus. Gene evolution by capture of downstream exons. Gene (2000) 260 13-23.
22. Thummel K.E., Wilkinson G.R. In-vitro and in-vivo drug interactions involving human CYP3A. Annu. Rev. Pharmacol. Toxicol. (1998) 38 389-430.
23. Hustert E., Haberl M., Burk O. et al. The genetic determinants of the CYP3A5 polymorphism. Pharmacogenetics (2001) 11 773-779.
24. 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.
25. Reich D., Thangaraj K., Patterson N., Price A.L., Singh L. Reconstructing Indian population history. Nature (2009) 24 489-494.
26. Van Schaik R.H., van der Heiden I.P., den Anker J.N., Lindemans J. CYP3A5 variant allele frequencies in Dutch Caucasians. Clin. Chem. (2002) 48 1668-1671.
27. Oscarson M., McLellan R.A., Gullstén H. et al. Characterisation and PCR-based detection of a CYP2A6 gene deletion found at a high frequency in a Chinese population. FEBS Lett. (1999) 448 105-110.
28. Soya S.S., Padmaja N., Adithan C. Genetic polymorphisms of CYP2E1 and GSTP1 in a South Indian population-comparison with North Indians, Caucasians and Chinese. Asian Pac. J. Cancer Prev. (2005) 6 315-319.
29. Blin N., Stafford D.W. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res. (1976) 3 2303-2308.
30. Hu Y., Oscarson M., Johansson I. et al. Genetic polymorphism of human CYP2E1: characterization of two variant alleles. Mol. Pharmacol. (1997) 51 370-376.
31. Matthias C., Bockmühl U., Jahnke V. et al. Polymorphism in cytochrome P450 CYP2D6, CYP1A1, CYP2E1 and glutathione S-transferase, GSTM1, GSTM3, GSTT1 and susceptibility to tobacco-related cancers: studies in upper aerodigestive tract cancers. Pharmacogenetics (1998) 8 91-100.
32. Yang C.S., Patten C.J., Ishizaki H. et al. Induction, purification, and characterization of cytochrome P450IIE. Methods Enzymol (1991) 206 595-601.
33. Johansson I., Ingelman-Sundberg M. Benzene metabolism by ethanol-, acetone-, and benzene-inducible cytochrome P-450 (IIE1) in rat and rabbit liver microsomes. Cancer Res. (1988) 48 5387-5390.
34. Koop D.R., Casazza J.P. Identification of ethanol-inducible P-450 isozyme 3a as the acetone and acetol monooxygenase of rabbit microsomes. J. Biol. Chem. (1985) 260 13607-13612.
35. Persson I., Johansson I., Bergling H. et al. Genetic polymorphism of cytochrome P4502E1 in a Swedish population. Relationship to incidence of lung cancer. FEBS Lett. (1993) 319 207-211.
36. Wong N.A.C.S., Rae F., Simpson K.J. et al. Genetic polymorphisms of cytochrome p4502E1 and susceptibility to alcoholic liver disease and hepatocellular carcinoma in a white population: a study and literature review, including meta-analysis. Mol. Pathol. (2000) 53 88-93.
37. Mittal R.D., Srivastava D.S., Mandhani A., Mittal B. Genetic polymorphism of drug metabolizing enzymes (CYP2E1, GSTP1) and susceptibility to bladder cancer in North India. Asian Pac. J. Cancer Prev. (2005) 6 6-9.
38. Hildesheim A., Anderson L.M., Chen C.J. et al. CYP2E1 genetic polymorphisms and risk of nasopharyngeal carcinoma in Taiwan. J. Natl Cancer Inst. (1997) 89 1207-1212.
39. Wu X., Shi H., Jiang H. et al. Associations between cytochrome P4502E1 genotype, mutagen sensitivity, cigarette smoking and susceptibility to lung cancer. Carcinogenesis (1997) 18 967-973.
40. Persson I., Johansson J., Lou Y.C. et al. Genetic polymorphism of xenobiotic metabolising enzymes among Chinese lung cancer patients. Int. J. Cancer (1999) 81 325-329.
41. Oyama T., Kawamato T., Mizoue T. et al. Cytochrome P450 2E1 polymorphism as a risk factor for lung cancer in relation to P53 gene mutation. Anticancer Res. (1997) 17 583-588.
42. Uematsun F., Ikawa S., Kikuehi H. et al. Restriction fragment length polymorphism of the human CYP2E1 (cytochrome P450IIE1) gene and susceptibility to lung cancer: possible relevance to low smoking exposure. Pharmacogenetics (1994) 4 58-63.
43. Nakajima M., Yamamoto T., Nunoya K. et al. Role of human cytochrome P4502A6 in C-oxidation of nicotine. Drug Metab. Dispos. (1996) 24 1212-1217.
44. Malaiyandi V., Sellers E.M., Tyndale R.F. Implications of CYP2A6 genetic variation for smoking behaviors and nicotine dependence. Clin. Pharmacol. Ther. (2005) 77 145-158.
45. Yamanaka H., Nakajima M., Nishimura K. et al. Metabolic profile of nicotine in subjects whose CYP2A6 gene is deleted. Eur. J. Pharm. Sci. (2004) 22 419-425.
46. Kwon J.T., Nakajima M., Chai S. et al. Nicotine metabolism and CYP2A6 allele frequencies in Koreans. Pharmacogenetics (2001) 11 317-323.
47. Hadidi H., Zahlsen K., Idle J.R., Cholerton S. A single amino acid substitution (Leu160His) in cytochrome P450 CYP2A6 causes switching from 7-hydroxylation to 3-hydroxylation of coumarin. Food Chem. Toxicol. (1997) 35 903-907.
48. Rossini A., Lima S.S., Rapozo D.C.M. et al. CYP2A6 and CYP2E1 polymorphism in a Brazilian population living in Rio de Janeiro. Braz. J. Med. Biol. Res. (2006) 39 195-201.
49. Oscarson M., Gullstén H., Rautio A. et al. Genotyping of human cytochrome P450 2A6 (CYP2A6), a nicotine C-oxidase. FEBS Lett. (1998) 438 201-205.
50. Nakajima M., Yoshida R., Fukami T. et al. Novel human CYP2A6 alleles confound gene deletion analysis. FEBS Lett. (2004) 569 75-81.
51. Oscarson M., McLellan A., Gullsten H. et al. Identification and characterisation of novel polymorphisms in the CYP2A locus: implications for nicotine metabolism. FEBS Lett. (1999) 460 321-327.
52. Hiratsuka M., Takekuma Y., Endo N. et al. Allele and genotype frequencies of CYP2B6 and CYP3A5 in the Japanese population. Eur. J. Clin. Pharmacol. (2002) 58 417-421.
53. Shimada T., Yamazaki H., Mimura M., Inui Y., Guengerich F.P. Interindividual variations in human liver cytochrome P-450 enzymes involved in the oxidation of drugs, carcinogens and toxic chemicals: studies with liver microsomes of 30 Japanese and 30 Caucasians. J. Pharmacol. Exp. Ther. (1994) 270 414-423.
54. Wrighton S.A., VandenBranden M., Ring B.J. The human drug metabolizing cytochromes P450. J. Pharmacokinet. Biopharm. (1996) 24 461-473.
55. Balram C., Zhou Q., Cheung Y.B., Lee E.J. CYP3A5*3 and *6 single nucleotide polymorphisms in three distinct Asian populations. Eur. J. Clin. Pharmacol. (2003) 59 123-126.
56. Thervet E., Loriot M.A., Barbier S. et al. Optimization of initial tacrolimus dose using pharmacogenetic testing. Clin. Pharmacol. Ther. (2010) 87 721-726.
57. Fukuen S., Fukuda T., Maune H. et al. Novel detection assay by PCR-RFLP and frequency of the CYP3A5*3 and *6 in a Japanese population. Pharmacogenetics (2002) 12 331-334.
58. Garsa A.A., McLeod H.L., Marsh S. CYP3A4 and CYP3A5 genotyping by pyrosequencing. BMC Med. Genet. (2005) 6 1-5.
59. Surekha D., Sailaja K., Rao N.D. et al. Association of CYP3A5*3 and CYP3A5*6 polymorphisms with breast cancer risk. Curr. Tren. Biotechnol. Pharm. (2009) 3 181-187.
60. Mahgoub A., Idle J.R., Dring L.G., Lancaster R., Smith R.L. Polymorphic hydroxylation of debrisoquine in man. Lancet (1977) 2 584-586.
61. Eichelbaum M., Spannbrucker N., Steincke B., Dengler H.J. Defective N-oxidation of sparteine in man: a new pharmacogenetic defect. Eur. J. Clin. Pharmacol. (1979) 16 183-187.
62. Dalen P., Dahl M.L., Ruiz M.L.B., Nordin J., Bertilsson L. 10-Hydroxylation of nortriptyline in white persons with 0, 1, 2, 3, and 13 functional CYP2D6 genes. Clin. Pharmacol. Ther. (1998) 63 444-452.
63. Mortimer O., Persson K., Ladona M.G. et al. Polymorphic formation of morphine from codeine in poor and extensive metabolizers of dextromethorphan: relationship to the presence of immunoidentified cytochrome P-450IID1. Clin. Pharmacol. Ther. (1990) 47 27-35.
64. Flockhart D.A. Drug interactions: cytochrome P450 drug interaction table. Indiana University, School of Medicine, division of clinical pharmacology, Indianapolis [IN], 2007. [Updated 2009 Nov 11; cited 2010 October 12] Available from:.
65. Aithal G.P., Day C.P., Kesteven P.J.L., Daly A.K. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet (1999) 353 717-719.
66. van der Weide J., Steijns L.S.W., van Weelden M.J.M., de Haan K. The effect of genetic polymorphism of cytochrome P450 CYP2C9 on phenytoin dose requirement. Pharmacogenetics (2001) 11 287-291.
67. Price Evans D.A., Manley K.A., McKusick V.A. Genetic control of isoniazid metabolism in man. BMJ (1960) 2 485-491.
68. Timbrell J.A., Harland S.J., Facchini V. Polymorphic acetylation of hydralazine. Clin. Pharmacol. Ther. (1980) 28 350-355.
69. Reidenberg M.M., Drayer D.E., Levy M., Warner H. Polymorphic acetylation of procainamide in man. Clin. Pharmacol. Ther. (1975) 17 722-730.
70. Iyer L., Hall D., Das S. et al. Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin. Pharmacol. Ther. (1999) 65 576-582.
71. Bosma P.J., Chowdhury J.R., Bakker C. et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N. Engl. J. Med. (1995) 333 1171-1175.
72. Weinshilboum R.M., Otterness D.M., Szumlanski C.L. Methylation pharmacogenetics: catechol O-methyltransferase, thiopurine methyltransferase, and histamine N-methyltransferase. Annu. Rev. Pharmacol. Toxicol. (1999) 39 19-52.
73. Zaïr Z.M., Eloranta J.J., Stieger B., Kullak-Ublick G.A. Pharmacogenetics of OATP (SLC21/SLCO), OAT and OCT (SLC22) and PEPT (SLC15) transporters in the intestine, liver and kidney. Pharmacogenomics (2008) 9 597-624.
74. Borst P., Evers R., Kool M., Wijnholds J. A family of drug transporters: the multidrug resistance-associated proteins. J. Natl Cancer Inst. (2000) 92 1295-1302.
75. Choo E.F., Leake B., Wandel C. et al. Pharmacological inhibition of P-glycoprotein transport enhances the distribution of HIV-1 protease inhibitors into brain and testes. Drug Metab. Dispos. (2000) 28 655-660.
76. Brinkmann U., Roots I., Eichelbaum M. Pharmacogenetics of the human drug-transporter gene MDR1: impact of polymorphisms on pharmacotherapy. Drug Discov. Today (2001) 6 835-839.