- Volume 15 Issue 17
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Significant Genotype Difference in the CYP2E1 PstI Polymorphism of Indigenous Groups in Sabah, Malaysia with Asian and Non-Asian Populations
- Goh, Lucky Poh Wah (Biotechnology Programme, Faculty of Science and Natural Resources, Universiti Malaysia Sabah) ;
- Chong, Eric Tzyy Jiann (Biotechnology Programme, Faculty of Science and Natural Resources, Universiti Malaysia Sabah) ;
- Chua, Kek Heng (Department of Biomedical Science, Faculty of Medicine, University of Malaya) ;
- Chuah, Jitt Aun (Department of Surgery, Queen Elizabeth Hospital) ;
- Lee, Ping-Chin (Biotechnology Programme, Faculty of Science and Natural Resources, Universiti Malaysia Sabah)
- 발행 : 2014.09.15
CYP2E1 PstI polymorphism G-1259C (rs3813867) genotype distributions vary significantly among different populations and are associated with both diseases, like cancer, and adverse drug effects. To date, there have been limited genotype distributions and allele frequencies of this polymorphism reported in the three major indigenous ethnic groups (KadazanDusun, Bajau, and Rungus) in Sabah, also known as North Borneo. The aim of this study was to investigate the genotype distributions and allele frequencies of the CYP2E1 PstI polymorphism G-1259C in these three major indigenous peoples in Sabah. A total of 640 healthy individuals from the three dominant indigenous groups were recruited for this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) at G-1259C polymorphic site of CYP2E1 gene was performed using the Pst I restriction enzyme. Fragments were analyzed using agarose gel electrophoresis and confirmed by direct sequencing. Overall, the allele frequencies were 90.3% for c1 allele and 9.7% for c2 allele. The genotype frequencies for c1/c1, c1/c2 and c2/c2 were observed as 80.9%, 18.8%, and 0.3%, respectively. A highly statistical significant difference (p<0.001) was observed in the genotype distributions between indigenous groups in Sabah with all Asian and non-Asian populations. However, among these three indigenous groups, there was no statistical significant difference (p>0.001) in their genotype distributions. The three major indigenous ethnic groups in Sabah show unique genotype distributions when compared with other populations. This finding indicates the importance of establishing the genotype distributions of CYP2E1 PstI polymorphism in the indigenous populations.
CYP2E1;PstI polymorphism;indigenous population;Sabah ethnic groups
연구 과제 주관 기관 : University of Malaya
- Agundez AGJ, Rodriguez I, Olivera M, et al (1997). CYP2D6, NAT2 and CYP2E1 genetic polymorphisms in nonagenarians. Age Ageing, 26, 147-51. https://doi.org/10.1093/ageing/26.2.147
- An HR, Wu XQ, Wang ZY, et al (2012). NAT2 and CYP2E1 polymorphisms associated with antituberculosis druginduced hepatotoxicity in Chinese patient. Clin Exp Pharmacol Physiol, 39, 535-43. https://doi.org/10.1111/j.1440-1681.2012.05713.x
- Bolt HM, Roos PH, Their 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 Health, 76, 174-85.
- Cai L, Yu SZ, Zhang ZF (2001). Cytochrome P450 2E1 genetic polymorphism and gastric cancer in Changle, Fujian province. World J Gastroenterol, 7, 792-5.
- 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
- Cotterchio M, Boucher BA, Manno M, et al (2008). Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk. Cancer Epidemiol Biomarkers Prev, 17, 3098-107. https://doi.org/10.1158/1055-9965.EPI-08-0341
- Danko IM, Chaschin NA (2005). Association of CYP2E1 gene polymorphism with predisposition to cancer development. Exp Oncol, 27, 248-56.
- Deng X-D, Gao Q, Zhang B, et al (2014). Functional Pst I/Rsa I polymorphism in cytochrome P450 2E1 contributes to bladder cancer susceptibility: evidence from a meta-analysis. Asian Pac J Cancer Prev, 15, 4977-82. https://doi.org/10.7314/APJCP.2014.15.12.4977
- Feng J, Pan X, Yu J, et al (2012). Functional Pst I/Rsa I 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
- Guo YM, Wang Q, Liu YZ, et al (2008). Genetic polymorphisms in cytochrome P4502E1, alcohol and aldehyde dehydrogenases and the risk of esophageal squamous cell carcinoma in Gansu Chinese males. World J Gastroenterol, 14, 1444-9. https://doi.org/10.3748/wjg.14.1444
- Gupta VH, Amarapurkar DN, Singh M, et al (2013). Association of N-acetyltransferase 2 and cytochrome P450 2E1 gene polymorphisms with antituberculosis drug-induced hepatotoxicity in Western India. J Gastroenterol Hepatol, 28, 1368-74. https://doi.org/10.1111/jgh.12194
- Hans JB, Craig S, Michael EB, et al (2008). Indigenous Groups of Sabah, An annotated Bibliography of linguistics and Anthropological Sources, SIL e-Books, (SIL International cooperation with the Govt. of the State of Sabah, Malaysia), XV-XVI.
- Haufroid V, Buchet JP, Gardinal S, et al (2002). Cytochrome P4502E1 phenotyping by the measurement of the chlorzoxazone metabolic ratio: assessment of its usefulness in workers exposed to styrene. Int Arch Occup Environ Health, 75, 453-8. https://doi.org/10.1007/s00420-002-0334-4
- Kee BP, Chua KH, Lee PC, et al (2012). Population data of six Alu insertions in indigenous groups from Sabah, Malaysia. Ann Hum Biol, 39, 505-10. https://doi.org/10.3109/03014460.2012.719548
- Kim RB, Yamazaki H, Chiba K, et al (1996). In vivo and in vitro characterization of CYP2E1 activity in Japanese and Caucasians. J Pharmacol Exp Ther, 279, 4-11.
- Kiss I, Orsos Z, Gombos K, et al (2007). Association between allelic polymorphisms of metabolizing enzymes (CYP 1A1, CYP 1A2, CYP 2E1, mEH) and occurrence of colorectal cancer in Hungary. Anticancer Res, 27, 2931-7.
- Kandasami P, Tan WJ, Norain K (2003). Gastric cancer in Malaysia: the need for early diagnosis. Med J Malaysia, 58, 758-62.
- Kury S, Buecher B, Robiou-du-Pont S, et al (2007). Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption. Cancer Epidemiol Biomarkers Prev, 16, 1460-7. https://doi.org/10.1158/1055-9965.EPI-07-0236
- 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
- Lakkakula S, Maram M, Munirajan AK, et al (2013). Functional Pst I/Rsa I polymorphisms in the CYP2E1 gene among south Indian populations. Asian Pac J Cancer Prev, 14, 179-82. https://doi.org/10.7314/APJCP.2013.14.1.179
- Lee SW, Chung LS, Huang HH, et al (2010). NAT2 and CYP2E1 polymorphisms and susceptibility to first-line anti-tuberculosis drug-induced hepatitis. Int J Tuberc Lung Dis, 14, 622-6.
- Leete R (2008). Sabah's population size and composition, Sabah's Human Development Progress and Challenges, Jan 7 2008, UNDP. Available at http://www.scribd.com/doc/2329023/UNDPSabah-Human-Development-Statistics (accessed 30 Dec 2013).
- Lin DX, Tang YM, Peng Q, et al (1998). Susceptibility to esophageal cancer and genetic polymorphisms in glutathione S-transferases T1, P1, and M1 and cytochrome P450 2E1. Cancer Epidemiol Biomarkers Prev, 7, 1013-8.
- Liu S, Park JY, Schantz SP, et al (2001). Elucidation of CYP2E1 5' regulatory RsaI/PstI 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
- Maezawa Y, Yamauchi M, Toda G (1994). Association between restriction fragment length polymorphism of the human cytochrome P450IIEI gene and susceptibility to alcoholic liver cirrhosis. Am J Gastroenterol, 89, 561-5.
- McCord JM (1998). Iron, free radicals, and oxidative injury. Semin Hematol, 35, 5-12.
- Nakazawa H, Genka C and Fujishima M (1996). Pathological aspects of active oxygen/free radicals. Jpn J Physiol, 46, 15-32. https://doi.org/10.2170/jjphysiol.46.15
- Park GT, Lee OY, Kwon SJ, et al (2003). Analysis of CYP2E1 polymorphisms for the determination of genetic susceptibility to gastric cancer in Koreans. J Gastroenterol Hepatol, 18, 1257-63. https://doi.org/10.1046/j.1440-1746.2003.03167.x
- Persson I, Johansson I, Bergling H, et al (1993). Genetic polymorphism of cytochrome P4502E1 in a Swedish population. FEBS Letters, 319, 207-11. https://doi.org/10.1016/0014-5793(93)80547-8
- Raunio H, Husgafvel, PK, Anttila S, et al (1995). Diagnosis of polymorphisms in carcinogen-activating and inactivating enzymes and cancer susceptibility - a review. Gene, 159, 113-21. https://doi.org/10.1016/0378-1119(94)00448-2
- Rossini A, Rapozo DC, Soares Lima SC, et al (2007). Polymorphisms of GSTP1 and GSTT1, but not of CYP2A6, CYP2E1 or GSTM1, modify the risk for esophageal cancer in a western population. Carcinogenesis, 28, 2537-42. https://doi.org/10.1093/carcin/bgm222
- Rundi C, Fielding K, Godfrey-Faussett P, et al (2011). Delays in seeking treatment for symptomatic tuberculosis in Sabah, East Malaysia: factors for patient delay. Int J Tuberc Lung Dis, 15, 1231-8. https://doi.org/10.5588/ijtld.10.0585
- Saeed HM, Alanazi MS, Nounou HA, et al (2013). Cytochrome P450 1A1, 2E1 and GSTM1 gene polymorphisms and susceptibility to colorectal cancer in the Saudi population. Asian Pac J Cancer Prev, 14, 3761-8. https://doi.org/10.7314/APJCP.2013.14.6.3761
- Shahriary GM, Galehdari H, Jalali A, et al (2012). CYP2E1*5B, CYP2E1*6, CYP2E1*7B, CYP2E1*2, and CYP2E1*3 allele frequencies in Iranian populations. Asian Pac J Cancer Prev, 13, 6505-10. https://doi.org/10.7314/APJCP.2012.13.12.6505
- Uematsu F, Kikuchi H, Motomiya M, et al (1992). Human cytochrome P450IIE1 gene: DraI polymorphism and susceptibility to cancer. Tohoku J Exp Med, 168, 113-7. https://doi.org/10.1620/tjem.168.113
- van der Logt EMJ, Bergevoet SM, Roelofs HMJ, et al (2006). Role of epoxide hydrolase, NAD(P)Hquinone oxidoreductase, cytochrome P450 2E1 or alcohol dehydrogenase genotypes in susceptibility to colorectal cancer. Mutat Res, 593, 39-49. https://doi.org/10.1016/j.mrfmmm.2005.06.018
- Wang D, Su M, Tian D, et al (2012). Associations between CYP1A1 and CYP2E1 polymorphisms and susceptibility to esophageal cancer in Chaoshan and Taihang areas of China. Cancer Epidemiol, 36, 276-82. https://doi.org/10.1016/j.canep.2011.10.008
- Wang Y-D, Yang H-Y, Liu J, Wang H-Y (2014). Updated metaanalysis of the association between CYP2E1 Rsa I/Pst I polymorphisms and lung cancer risk in Chinese population. Asian Pac J Cancer Prev, 15, 5411-16. https://doi.org/10.7314/APJCP.2014.15.13.5411
- Wise MR (2008). Indigenous groups of Sabah: an annotated bibliography of linguistic and anthropological sources. Malaysia: The Natural History Publications.
- Wu D, Cederbaum AI (2005). Oxidative stress mediated toxicity exerted by ethanol-inducible CYP2E1. Toxicol Appl Pharmacol, 207, 70-6. https://doi.org/10.1016/j.taap.2005.01.057
- Wu X, Shi H, Jiang H, et al (1997). Associations between cytochrome P4502E1 genotype, mutagen sensitivity, cigarette smoking and susceptibility to lung cancer. Carcinogenesis, 18, 967-73. https://doi.org/10.1093/carcin/18.5.967
- Wu X, Amos CI, Kemp BL, et al (1998). Cytochrome P450 2E1 Dra I polymorphism in lung cancer in minority populations. Cancer Epidemiol Biomarkers Prev, 7, 13-8.
- Yu MW, Gladek-Yarborough A, Chiamprasert S, et al (1995). Cytochrome P450 2E1 and glutathione S-transferase M1 polymorphisms and susceptibility to hepatocellular carcinoma. Gastroenterol, 109, 1266-73. https://doi.org/10.1016/0016-5085(95)90587-1
- Zhuge J, Luo Y, Yu YN (2003). Heterologous expression of human cytochrome P450 2E1 in HepG2 cell line. World J Gastroenterol, 9, 2732-6.
- Association of CYP2E1, STK15 and XRCC1 Polymorphisms with Risk of Breast Cancer in Malaysian Women vol.17, pp.2, 2016, https://doi.org/10.7314/APJCP.2016.17.2.647
- Genetic relatedness of indigenous ethnic groups in northern Borneo to neighboring populations from Southeast Asia, as inferred from genome-wide SNP data vol.82, pp.4, 2018, https://doi.org/10.1111/ahg.12246