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CYP2E1*5B, CYP2E1*6, CYP2E1*7B, CYP2E1*2, and CYP2E1*3 Allele Frequencies in Iranian Populations

  • Shahriary, Ghazaleh Mohammadzadeh (Department of Genetics, Faculty of Mathematics, Shaheed Chamran University) ;
  • Galehdari, Hamid (Department of Genetics, Faculty of Mathematics, Shaheed Chamran University) ;
  • Jalali, Amir (Department of Pharmacology and Toxicology, School of Pharmacy and Toxicology Research Center, Jundishapur University of Medical Sciences Center) ;
  • Zanganeh, Fatemeh (Department of Pharmacology and Toxicology, School of Pharmacy, Shaheed Beheshti University of Medical Sciences) ;
  • Alavi, Seyed Mohammad Reza (Department of Statistics, Faculty of Mathematics, Shaheed Chamran University) ;
  • Aghanoori, Mohammad Reza (Department of Medical Genetics, Shiraz University of Medical Sciences)
  • Published : 2012.12.31

Abstract

Background: CYP2E1 encodes an enzyme which is mainly involved in bioactivation of potential carcinogens such as N-nitrosamines. Polymorphisms in the gene have been reported to be associated with cancer. The aim of this study was to evaluate genotype distributions and allele frequencies of five CYP2E1 polymorphisms in Iran Materials and Methods: Two hundred healthy individuals of an Iranian population from the southwest were included in this study. PCR-restriction fragment length polymorphism and Tetra-ARMS PCR methods were applied for CYP2E1 genotyping. Results: The allele frequencies for $^*5B$, $^*6$, $^*7B$, $^*2$, and $^*3$ were calculated to be 1.5%, 16%, 28.5%, 0%, and 2.75% respectively. Results of this study showed that no significant differences in genotype and allele frequencies of five single nucleotide polymorphisms with respect to the gender and tribes. The chi-square test showed that the genotype frequencies of $CYP2E1^*5B$ were similar to Caucasians, but the distribution of $CYP2E1^*6$ genotypes was similar to Asians. The frequencies of $CYP2E1^*2$ (0%) and $CYP2E1^*3$ (2.75%) alleles were within the range for Caucasians and Orientals. In the case of $CYP2E1^*7B$, the data werelimited. Accordingly, the results were only compared with Europeans and the comparison showed significant differences. Conclusions: In conclusion, ethnic and geographic differences may explain discrepancies in the prevalence of CYP2E1 polymorphisms.

Keywords

Cytochrome P450;polymorphism;genotyping;allele frequency;Iranian population

References

  1. Ye S, Dhillon S, Ke X, Collins AR, Day INM (2001). An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res, 29, 88-8. https://doi.org/10.1093/nar/29.17.e88
  2. Zhou GW, Hu J, Li Q (2010). CYP2E1 PstI /RsaI polymorphism and colorectal cancer risk: A meta-analysis. World J Gastroenterol, 16, 2949-53. https://doi.org/10.3748/wjg.v16.i23.2949
  3. Zhuge J, Luo Y, Yu YN (2003). Heterologous expression of human cytochrome P450 2E1 in HepG2 cell line. World J Gastroenterol, 9, 2732-6.
  4. Persson I, Johansson I, Bergling H, et al (1993). Genetic polymorphism of cytochrome P4502E1 in a Swedish population. Relationship to incidence of lung cancer. FEBS Lett, 319, 207-11. https://doi.org/10.1016/0014-5793(93)80547-8
  5. Quinones L, Lucas D, Godoy J, et al (2001). CYP1A1, CYP2E1 and GSTM1 genetic polymorphisms. The effect of single and combined genotypes on lung cancer susceptibility in Chilean people. Cancer Lett, 174, 35-44. https://doi.org/10.1016/S0304-3835(01)00686-3
  6. Rossini A, Lima SS, Rapozo DC, et al (2006). CYP2A6 and CYP2E1 polymorphisms in a Brazilian population living in Rio de Janeiro. Braz J Med Biol Res, 39, 195-201.
  7. Ruwali M, Khan AJ, Shah PP, et al (2009). Cytochrome P450 2E1 and head and neck cancer: interaction with genetic and environmental risk factors. Environ Mol Mutagen, 50, 473-82. https://doi.org/10.1002/em.20488
  8. Sangrajrang S, Jedpiyawongse A, Srivatanakul P (2006). Genetic Polymorphisms of CYP2E1 and GSTM1 in a Thai Population. Asian Pac J Cancer Prev, 7, 415-9.
  9. Soya SS, Padmaja N, Adithan C (2005). Genetic polymorphisms of CYP2E1 and GSTP1 in a South Indian population-- comparison with North Indians, Caucasians and Chinese. Asian Pac J Cancer Prev, 6, 315-9.
  10. Sugimura T, Kumimoto H, Tohnai I, et al (2006). Geneenvironment interaction involved in oral carcinogenesis: molecular epidemiological study for metabolic and DNA repair gene polymorphisms. J Oral Pathol Med, 35, 11-8. https://doi.org/10.1111/j.1600-0714.2005.00364.x
  11. Tang K, Li Y, Zhang Z, et al (2010). The PstI/RsaI and DraI polymorphisms of CYP2E1 and head and neck cancer risk: a meta-analysis based on 21 case-control studies. BMC Cancer, 10, 575. https://doi.org/10.1186/1471-2407-10-575
  12. Thier R, Lewalter J, Selinski S, Bolt HM (2002). Possible impact of human CYP2E1 polymorphisms on the metabolism of acrylonitrile. Toxicol Lett, 128, 249-55. https://doi.org/10.1016/S0378-4274(01)00546-X
  13. Uematsu F, Kikuchi H, Motomiya M, et al (1991). Association between restriction fragment length polymorphism of the human cytochrome P450IIE1 gene and susceptibility to lung cancer. Jpn J Cancer Res, 82, 254-6. https://doi.org/10.1111/j.1349-7006.1991.tb01838.x
  14. Ulusoy G, Arinc E, Adali O (2007). Genotype and allele frequencies of polymorphic CYP2E1 in the Turkish population. Arch Toxicol, 81, 711-8. https://doi.org/10.1007/s00204-007-0200-y
  15. Umeno M, McBride OW, Yang CS, Gelboin HV, Gonzalez FJ (1988). Human ethanol-inducible P450IIE1: complete gene sequence, promoter characterization, chromosome mapping, and cDNA-directed expression. Biochemistry, 27, 9006-13. https://doi.org/10.1021/bi00425a019
  16. Wang SM, Zhu AP, Li D, et al (2009). Frequencies of genotypes and alleles of the functional SNPs in CYP2C19 and CYP2E1 in mainland Chinese Kazakh, Uygur and Han populations. J Hum Genet, 54, 372-5. https://doi.org/10.1038/jhg.2009.41
  17. Wang Y, Yang H, Li L, et al (2010). Association between CYP2E1 genetic polymorphisms and lung cancer risk: A meta-analysis. Eur J Cancer, 46, 758-64. https://doi.org/10.1016/j.ejca.2009.12.010
  18. Yang B, O'Reilly DA, Demaine AG, Kingsnorth AN (2001). Study of polymorphisms in the CYP2E1 gene in patients with alcoholic pancreatitis. Alcohol, 23, 91-7. https://doi.org/10.1016/S0741-8329(00)00135-X
  19. Fairbrother KS, Grove J, de Waziers I, et al (1998). Detection and characterization of novel polymorphisms in the CYP2E1 gene. Pharmacogenetics, 8, 543-52. https://doi.org/10.1097/00008571-199812000-00011
  20. Feng J, Pan X, Yu J, et al (2012). Functional PstI/RsaI polymorphism in CYP2E1 is associated with the development, progression and poor outcome of gastric cancer. Plos One, 7, 44478. https://doi.org/10.1371/journal.pone.0044478
  21. Gajecka M, Rydzanicz M, Jaskula-Sztul R, et al (2005). CYP1A1, CYP2D6, CYP2E1, NAT2, GSTM1 and GSTT1 polymorphisms or their combinations are associated with the increased risk of the laryngeal squamous cell carcinoma. Mutat Res, 574, 112-23. https://doi.org/10.1016/j.mrfmmm.2005.01.027
  22. Garte S, Gaspari L, Alexandrie AK, et al (2001). Metabolic gene polymorphism frequencies in control populations. Cancer Epidemiol. Biomarkers Prev, 10, 1239-48.
  23. Gordillo-Bastidas E, Panduro A, Gordillo-Bastidas D, et al (2010). Polymorphisms of alcohol metabolizing enzymes in indigenous mexican population: unusual high frequency of CYP2E1*c2 Allele. Alcohol Clin Exp Res, 34, 142-9. https://doi.org/10.1111/j.1530-0277.2009.01075.x
  24. Guo X, Zeng Y, Deng H, et al (2010). Genetic polymorphisms of CYP2E1, GSTP1, NQO1 and MPO and the risk of nasopharyngeal carcinoma in a Han Chinese population of Southern China. BMC Res Notes, 3, 212. https://doi.org/10.1186/1756-0500-3-212
  25. Guo S, Li X, Gao M, et al (2012). Synergistic association of PTGS2 and CYP2E1 genetic polymorphisms with lung cancer risk in northeastern chinese. Plos One, 7, 39814. https://doi.org/10.1371/journal.pone.0039814
  26. Hayashi S, Watanabe J, Kawajiri K (1991). Genetic polymorphisms in the 5'-flanking region change transcriptional regulation of the human cytochrome P450IIE1 gene. J Biochem, 110, 559-65.
  27. Hou DF, Wang SL, He ZM, Yang F, Chen ZC (2007). Expression of CYP2E1 in human nasopharynx and its metabolic effect in vitro. Mol Cell Biochem, 298, 93-100. https://doi.org/10.1007/s11010-006-9356-7
  28. Hu Y, Oscarson M, Johansson I, et al (1997). Genetic polymorphism of human CYP2E1: characterization of two variant alleles. Mol Pharmacol, 51, 370-6.
  29. Ingelman-Sundberg M (2001). Genetic variability in susceptibility and response to toxicants. Toxicol Lett, 120, 259-68. https://doi.org/10.1016/S0378-4274(01)00278-8
  30. Kayaalti Z, Soylemezoglu T (2010). Distribution of ADH1B, ALDH2, CYP2E1 *6, and CYP2E1 *7B genotypes in Turkish population. Alcohol, 44, 415-23. https://doi.org/10.1016/j.alcohol.2010.06.002
  31. Konishi T, Calvillo M, Leng AS, et al (2003). The ADH3*2 and CYP2E1 c2 alleles increase the risk of alcoholism in Mexican American men. Exp Mol Pathol, 74, 183-9. https://doi.org/10.1016/S0014-4800(03)00006-6
  32. Liu S, Park JY, Schantz SP, Stern JC, Lazarus P (2001). Elucidation of CYP2E1 5' regulatory RsaI/Pstl allelic variants and their role in risk for oral cancer. Oral Oncol, 37, 437-45. https://doi.org/10.1016/S1368-8375(00)00099-3
  33. Marques CF, Koifman S, Koifman RJ, et al (2006). Influence of CYP1A1, CYP2E1, GSTM3 and NAT2 genetic polymorphisms in oral cancer susceptibility: results from a case-control study in Rio de Janeiro. Oral Oncol, 42, 632-7. https://doi.org/10.1016/j.oraloncology.2005.11.003
  34. Neuhaus T, Ko YD, Lorenzen K, et al (2004). Association of cytochrome P450 2E1 polymorphisms and head and neck squamous cell cancer. Toxicol Lett, 151, 273-82. https://doi.org/10.1016/j.toxlet.2003.09.017
  35. Boccia S, De Lauretis A, Gianfagna F, van Duijn CM, Ricciardi G (2007). CYP2E1PstI/RsaI polymorphism and interaction with tobacco, alcohol and GSTs in gastric cancer susceptibility: A meta-analysis of the literature. Carcinogenesis, 28, 101-6. https://doi.org/10.1093/carcin/bgl124
  36. Boccia S, Cadoni G, Sayed-Tabatabaei FA, et al (2008). CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer. J Cancer Res Clin Oncol, 134, 93-100.
  37. Bolt HM, Roos PH, Thier R (2003). The cytochrome P-450 isoenzyme CYP2E1 in the biological processing of industrial chemicals: consequences for occupational and environmental medicine. Int Arch Occup Environ Hlth, 76, 174-85.
  38. Bouchardy C, Hirvonen A, Coutelle C, et al (2000). Role of alcohol dehydrogenase 3 and cytochrome P-4502E1 genotypes in susceptibility to cancers of the upper aerodigestive tract. Int J Cancer, 87, 734-40. https://doi.org/10.1002/1097-0215(20000901)87:5<734::AID-IJC17>3.0.CO;2-E
  39. Cai L, Zheng ZL, Zhang ZF (2005). Cytochrome p450 2E1 polymorphisms and the risk of gastric cardia cancer. World J Gastroenterol, 11, 1867-71. https://doi.org/10.3748/wjg.v11.i12.1867
  40. Costa GN, Magno LA, Santana CV, et al (2012). Genetic interaction between NAT2, GSTM1, GSTT1, CYP2E1, and environmental factors is associated with adverse reactions to anti-tuberculosis drugs. Mol Diagn Ther, 16, 241-50. https://doi.org/10.1007/BF03262213
  41. Danko IM, Chaschin NA (2005). Association of CYP2E1 gene polymorphism with predisposition to cancer development. Exp Oncol, 27, 248-56.
  42. Ernstgard L, Warholm M, Johanson G (2004). Robustness of chlorzoxazone as an in vivo measure of cytochrome P450 2E1 activity. Br J Clin Pharmacol, 58, 190-200. https://doi.org/10.1111/j.1365-2125.2004.02132.x

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