Genetic Polymorphisms of Genes Coding to Alcohol-Metabolizing Enzymes in Western Mexicans: Association of CYP2E1*c2/CYP2E1*5B Allele with Cirrhosis and Liver Function

Alcoholism: Clinical and Experimental Research

Volumn 36, Issue 3, 2012, Pages 425-431

  García Bañuelos, Jesús ^a   Panduro, Arturo ^b   Gordillo Bastidas, Daniela ^a   Gordillo Bastidas, Elizabeth ^a   Muñoz Valle, José Francisco ^a   Gurrola Díaz, Carmen M ^a   Sánchez Enríquez, Sergio ^a   Ruiz Madrigal, Bertha ^b   Bastidas Ramírez, Blanca Estela ^a  

^a UNIVERSITY OF GUADALAJARA   (Mexico)

^b HOSPITAL CIVIL DE GUADALAJARA FRAY ANTONIO ALCALDE   (Mexico)

Author keywords

Alcoholic liver disease; Obesity; Oxidative stress; Pharmacogenetics; Polymorphisms

Indexed keywords

ALANINE AMINOTRANSFERASE; ALCOHOL DEHYDROGENASE; ALCOHOL DEHYDROGENASE 2; ALDEHYDE DEHYDROGENASE ISOENZYME 2; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CYTOCHROME P450 2E1; DNA; UNCLASSIFIED DRUG;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALCOHOL LIVER CIRRHOSIS; ALLELE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CONTROLLED STUDY; DECOMPENSATED LIVER CIRRHOSIS; DISEASE SEVERITY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; LIVER FUNCTION; MAJOR CLINICAL STUDY; MALE; MEXICO; MORTALITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTHROMBIN TIME; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCORING SYSTEM;

ADULT; ALCOHOL DEHYDROGENASE; ALDEHYDE DEHYDROGENASE; CYTOCHROME P-450 CYP2E1; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LIVER CIRRHOSIS, ALCOHOLIC; LIVER FUNCTION TESTS; MALE; MEXICO; POLYMORPHISM, GENETIC;

EID: 84857505901     PISSN: 01456008     EISSN: 15300277     Source Type: Journal    
DOI: 10.1111/j.1530-0277.2011.01617.x     Document Type: Article

References (70)

1. Aceves D, Ruiz B, Nuño P, Roman S, Zepeda E, Panduro A (2006) Heterogeneity of apolipoprotein E polymorphism in different Mexican populations. Hum Biol78:65-75.
2. Agundez J, Ladero J, Díaz-Rubio M, Benitez J (1996) RsaI polymorphism at the cytochrome P4502E1 locus is not related to the risk of alcohol-related severe liver disease. Liver16:380-383.
3. Bastidas-Ramírez BE, Nuño-González P, Vivas-Arceo C, Sánchez-Orozco LV, Panduro A (2002) Albumin mRNA in peripheral white blood cells of cirrhotic patients with a superimposed alcoholic hepatitis is associated to fatal outcome. Hepatology Res24:265-274.
4. Bataller R, North KE, Bremer DA (2003) Genetic polymorphisms and the progression of liver fibrosis: a critical appraisal. Hepatology37:493-503.
5. Bosron WF, Li TK (1986) Genetic polymorphism of human liver alcohol and aldehyde dehydrogenases, and their relationship to alcohol metabolism and alcoholism. Hepatology6:502-510.
6. Campollo O, Valencia-Salinas JJ, Berumen-Arellano A, Pérez-Aranda MA, Panduro-Cerda A, Segura-Ortega J (1997) Epidemiological characteristics of liver cirrhosis at the Hospital Civil of Guadalajara. Salud Publica Mex39:195-200.
7. Chao YC, Liou SR, Chung YY, Tang HS, Hsu CT, Li TK, Yin SJ (1994) Polymorphism of alcohol and aldehyde dehydrogenase genes and alcoholic cirrhosis in Chinese patients. Hepatology19:360-366.
8. Chen YC, Peng GS, Tsao TP, Wang MF, Lu RB, Yin SJ (2009) Pharmacokinetic and pharmacodynamic basis for overcoming acetaldehyde-induced adverse reaction in Asian alcoholics, heterozygous for the variant ALDH2*2 gene allele. Pharmacogeneti Genom19:588-599.
9. Cichoz-Lach H, Partycka J, Nesina I, Celiński K, Słomka M (2006) The influence of genetic polymorphism of CYP2E1 on the development of alcohol liver cirrhosis. Wiad Lek59:757-761.
10. Couzigou P, Fleury B, Gropi A, Cassaigne A, Begueret J, Iron A, and the French group for research on alcohol and liver (1990) Genotyping study of alcohol dehydrogenase class I polymorphism in French patients with alcoholic cirrhosis. Alcohol Alcohol25:623-626.
11. 2 allele is dominant. J Clin Invest83:314-316.
12. Cuevas-Covarrubias SA, Jiménez-Vaca AL, González-Huerta LM, Valdés-Flores M, Rivera-Vega MR, Maya-Núñez G, Kofman-Alfaro SH (2002) Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier. J Invest Dermatol119:972-975.
13. Daly AK (2003) Candidate gene case-control studies. Pharmacogenomics4:1-13.
14. Day CP (2003) Host genetic factors and the progression of liver diseases, in Progress in the Treatment of Liver Diseases (Arroyo V, Forns X, Pagan JG, Rodes J eds), pp 453-462. Ars Medica, Barcelona.
15. Dey A, Cederbaum AI (2006) Alcohol and oxidative liver injury. Hepatology43:S63-S74.
16. Douds AC, Cox MA, Iqbal TH, Cooper BT (2003) Ethnic differences in cirrhosis of the liver in a British city: alcoholic cirrhosis in South Asian men. Alcohol Alcohol38:148-150.
17. Durand F, Valla D (2005) Assessment of the prognosis of cirrhosis: Child-Pugh versus MELD. J Hepatol42:S100-S107.
18. Gao CM, Takezaki T, Wu JZ, Chen MB, Liu YT, Ding JH, Sugimura H, Cao J, Hamajima N, Tajima K (2007) CYP2E1 Rsa I polymorphism impacts on risk of colorectal cancer association with smoking and alcohol drinking. World J Gastroenterol13:5725-5730.
19. Gemma S, Vichi S, Testai E (2006) Individual susceptibility and alcohol effects: biochemical and genetic aspects. Ann Ist Super Sanita42:8-16.
20. Goedde HW, Agarwal DP, Fritze G, Meier-Tackmann SS, Beckmann G, Bhatia K, Chen LZ, Fang B, Lisker R, Paik YK, Rothhammer F, Saha N, Segal B, Srivastava LM, Czeizel A (1992) Distribution of ADH2 and ALDH2 genotypes in different populations. Hum Genet88:344-346.
21. Gordillo-Bastidas E, Panduro A, Gordillo-Bastidas D, Zepeda-Carrillo EA, García-Bañuelos JJ, Muñoz-Valle JF, Bastidas-Ramirez BE (2010) Polymorphisms of alcohol metabolizing enzymes in indigenous Mexican population: unusual high frequency of CYP2E1*c2 allele. Alcohol Clin Exp Res34:142-149.
22. Hayashi SI, Watanabe J, Kawajiri K (1991) Genetic polymorphism in the 5'-flanking region change transcriptional regulation of the human cytochrome P450IIE1 gene. J Biochem110:559-565.
23. Hernández-Nazará ZH, Ruiz-Madrigal B, Martínez-López E, Roman S, Panduro A (2008) Association of the ε2 allele of apo E gene to hypertriglyceridemia and to early-onset alcoholic cirrhosis. Alcohol Clin Exp Res32:559-566.
24. Hong J, Pan JM, González FJ, Gelboin HV, Yang CS (1987) The induction of a specific form of cytochrome P-450 (P-450j) by fasting. Biochem Biophys Res Commun142:1077-1083.
25. Hsu LC, Tani K, Fujiyoshi T, Kurachi K, Yoshida A (1985) Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. Proc Natl Acad Sci USA82:3771-3775.
26. Iwahashi K, Ameno S, Ameno K, Okada N, Kinoshita H, Sakae Y, Nakamura K, Watanabe M, Ijiri I, Harada S (1998) Relationship between Alcoholism and CYP2E1 C/D polymorphism. Neuropsychobiology38:218-221.
27. Johansson I, Lindros KO, Eriksson H, Ingelman-Sundberg M (1990) Transcriptional control of CYP2E1 in the perivenous liver region and during starvation. Biochem Biophys Res Commun173:331-338.
28. Khan AJ, Sharma A, Choudhuri G, Parmar D (2011) Induction of blood lymphocyte cytochrome P4502E1 in early stage alcoholic liver cirrhosis. Alcohol45:81-87.
29. Konishi T, Calvillo M, Leng AS, Feng J, Lee T, Lee H, Smith JL, Sial SH, Berman N, French S, Eysselein V, Lin KM, Wan YJY (2003) The ADH3*2 and CYP2E1c2 alleles increase the risk of alcoholism in Mexican American men. Exp Mol Pathol74:183-189.
30. Lee HC, Lee HS, Jung SH, Yi SY, Jung HK, Yoon JH, Kim CY (2001) Association between polymorphisms of ethanol-metabolizing enzymes and susceptibility to alcoholic cirrhosis in a Korean male population. J Korean Med Sci16:745-750.
31. Lee SL, Chau GY, Yao CT, Wu CW, Y SJ (2006) Functional assessment of human alcohol dehydrogenase family in ethanol metabolism: significance of first-pass metabolism. Alcohol Clin Exp Res30:1132-1142.
32. Lieber CS (2000) Alcohol and the liver. Mt Sinai J Med67:84-94.
33. Lieber CS (2004a) CYP2E1: from ASH to NASH. Hepatol Res28:1-11.
34. Lieber CS (2004b) The discovery of the microsomal ethanol oxidizing system and its physiologic and pathologic role. Drug Metab Rev36:511-529.
35. Lindros KO, Jarvelainen HA (1998) A new oral low-carbohydrate alcohol liquid diet producing liver lesions: a preliminary account. Alcohol Alcohol33:347-353.
36. Lu Y, Cederbaum AI (2008) CYP2E1 and oxidative liver injury by alcohol. Free Radic Biol Med44:723-738.
37. Marceau P, Biron S, Hould FS, Marceau S, Simard S, Thung SN, Kral JG (1999) Liver pathology and the metabolic syndrome x in severe obesity. J Clin Endocr Metab84:1513-1517.
38. Marrero JA, Fontana RJ, Fu S, Conjeevaram HS, Su GL, Lok AS (2005) Alcohol, tobacco and obesity are synergistic risk factors for hepatocellular carcinoma. J Hepatol42:218-224.
39. Matsuo K, Wakai K, Hirose K, Ito H, Saito T, Suzuki T, Kato T, Hirai T, Kanemitsu Y, Hamajima H, Tajima K (2006) A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan. Carcinogenesis27:1018-1023.
40. Méndez-Sánchez N, Aguilar-Ramírez JR, Reyes A, Dehesa M, Juarez A, Castañeda B, Sánchez-Avila F, Poo JL, Guevara-González L, Lizardi J, Valdovinos MA, Uribe M, Contreras AM, Tirado P, Aguirre J, Rivera-Benitez C, Santiago-Santiago R, Bosques-Padilla F, Muñoz L, Guerrero A, Ramos M, Rodríguez-Hernández H, Jacobo-Karam J (2004) Etiology of liver cirrhosis in México. Ann Hepatol3:30-33.
41. Mezey E (1998) Dietary fat and alcoholic liver disease. Hepatology28:901-905.
42. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res16:1215.
43. Monzoni A, Masutti F, Saccoccio G, Bellentani S, Tiribelli C, Giacca M (2001) Genetic determinants of alcohol-induced liver damage. Mol Med7:255-262.
44. Morita M, LeMarchand L, Kono S, Yin G, Toyomura K, Nagano J, Mizoue T, Mibu R, Tanaka M, Kakeji Y, Maehara Y, Okamura T, Ikejiri K, Futami K, Maekawa T, Yasunami Y, Takenaka K, Ichimiya H, Imaizumi N (2009) Genetic polymorphisms of CYP2E1 and risk of colorectal cancer: the Fukuoka colorectal cancer study. Cancer Epidemiol Biomarkers Prev18:235-241.
45. Nanji AA, Zhao S, Sadrzadeh SM, Dannenberg AJ, Tahan SR, Waxman DJ (1994) Markedly enhanced cytochrome P4502E1 induction and lipid peroxidation is associated with severe liver injury in fish oil-ethanol-fed rats. Alcohol Clin Exp Res18:1280-1285.
46. Nuño-González P, Ruiz-Madrigal B, Bastidas-Ramírez BE, Martínez-López E, Segura JE, Panduro A (2005) Expression of apolipoprotein AI mRNA in peripheral white blood cells of patients with alcoholic liver disease. Biochim Biophys Acta1740:350-356.
47. Pirmohamed M, Kitteringham NR, Quest LJ, Allot RL, Green VJ, Gilmore IT, Park BK (1995) Genetic polymorphism of cytochrome P4502E1 and risk of alcoholic liver disease in Caucasians. Pharmacogenetics5:351-357.
48. Poonawala A, Nair SP, Thuluvath PJ (2000) Prevalence of obesity and diabetes in patients with cryptogenic cirrhosis: a case-control study. Hepatology32:689-692.
49. Rao RK, Seth A, Sheth P (2004) Recent advances in alcoholic liver disease I. Role of intestinal permeability and endotoxemia in alcoholic liver disease. Am J Physiol Gastrointest Liver Physiol286:G881-G884.
50. Raucy JL, Lasken JM, Kraner JC, Salazar DE, Lieber CS, Corcoran GB (1991) Induction of cytochrome P450IIE1 in the obese overfed rat. Mol Pharmacol39:275-280.
51. Ribeiro-Olivieri EH, da Silva SD, Fernandez-Mendonca F, Urata YN, Vidal DO, de Araujo-Medrado-Faria M, Nobuco-Nishimoto I, Rainho CA, Kowalski LP, Rogatto SR (2009) CYP1A2*1C, CYP2E1*5B and GSTM1 polymorphisms are predictors of risk and poor outcome in head and neck squamous cell carcinoma patients. Oral Oncol45:e73-e79.
52. Stickel F, Österreicher CH (2006) The role of genetic polymorphisms in alcoholic liver disease. Alcohol Alcohol41:209-224.
53. Takada A, Tsutsumi M (1995) National survey of alcoholic liver disease in Japan (1968-91). J Gastroenterol Hepatol10:509-516.
54. Takeshita T, Morimoto K, Mao XQ, Hashimoto T, Furuyama J (1994) Characterization of the three genotypes of low Km aldehyde dehydrogenase in a Japanese population. Hum Genet94:217-223.
55. Tan W, Song N, Wang GQ, Liu Q, Tang HJ, Kadlubar FF, Lin DX (2000) Impact of genetic polymorphism in cytochrome P450 2E1 and glutathione S-transferases M1, T1, and P1 on susceptibility to esophageal cancer among high risk individuals in China. Cancer Epidemiol Biomarkers Prev9:551-556.
56. Teli MR, Day CP, James FW, Burt AD, Bennett MK (1995) Determinants of progression to cirrhosis or fibrosis in pure alcoholic fatty liver. Lancet346:987-990.
57. Ueno Y, Adachi J, Imamichi H, Nishimura A, Tatsuno Y (1996) Effect of the cytochrome P-450IIE1 genotype on ethanol elimination rate in alcoholics and control subjects. Alcohol Clin Exp Res20:17a-21a.
58. Vidal F, Lorenzo A, Auguet T, Olona M, Broch M, Gutiérrez C, Aguilar C, Estupiña P, Santos M, Richart C (2004) Genetic polymorphisms of ADH2, ADH3, CYP4502E1 Dra-I and Pst-I, and ALDH2 in Spanish men: lack of association with alcoholism and alcoholic liver disease. J Hepatol41:744-750.
59. Wall TL, Peterson CM, Peterson KP, Johnson ML, Thomasson HR, Cole M, Ehlers CL (1997) Alcohol metabolism in Asian-American men with genetic polymorphisms of aldehyde-dehydrogenase. Ann Intern Med127:376-379.
60. Watanabe J, Hayashi S, Kawajiri K. (1994) Different regulation and expression of the human CYP2E1 gene due to the RsaI polymorphism in the 5'-flanking region. J Biochem116:321-326.
61. Webb A, Lind PA, Kalmijn J, Feiler HS, Smith TL, Schuckit MA, Wilhelmsen K (2011) The investigation into CYP2E1 in relation to the level of response to alcohol through a combination of linkage and association analysis. Alcohol Clin Exp Res35:1-9.
62. Wong NA, Rae F, Simpson KJ, Murray GD, Harrison DJ (2000) Genetic polymorphism of cytochrome p4502E1 and susceptibility to alcoholic liver disease and hepatocellular carcinoma in a white population: a study and literature review, including meta-analysis. J Clin Pathol/Mol Pathol53:88-93.
63. Wu CF, Wu DC, Hsu HK, Kao EL, Lee JM, Lin CC, Wu MT (2005) Relationship between genetic polymorphisms of alcohol and aldehyde dehydrogenases and esophageal squamous cell carcinoma risk in males. World J Gastroenterol11:5103-5108.
64. Xu YL, Carr LG, Bosron WF, Li TK, Edenberg HJ (1988) Genotyping of human alcohol dehydrogenase at the ADH2 and ADH3 loci following DNA sequence amplification. Genomics2:209-214.
65. Yamauchi M, Maezawa Y, Mizuhara Y, Ohata M, Hirakawa J, Nakajima H, Toda G (1995b) Polymorphisms in alcohol metabolizing enzyme genes and alcoholic cirrhosis in Japanese patients: a multivariate analysis. Hepatology22:1136-1142.
66. Yamauchi M, Maezawa Y, Toda G, Suzuki H, Sakurai S (1995a) Association of a restriction fragment length polymorphism in the alcohol dehydrogenase 2 gene with Japanese alcoholic liver cirrhosis. J Hepatol23:519-523.
67. Yang SJ, Wang HY, Li XQ, Du HZ, Zheng CJ, Chen HG, Mu XY, Yang CX (2007) Genetic polymorphisms of ADH2 and ALDH2 association with esophageal cancer risk in Southwest China. World J Gastroenterol13:5760-5764.
68. Zakhari S, Li TK (2007) Determinants of alcohol use and abuse: impact of quantity and frequency patterns on liver disease. Hepatology46:2032-2039.
69. Zima T, Kalousová M (2005) Oxidative stress and signal transduction pathways in alcoholic liver disease. Alcohol Clin Exp Res29:110S-115S.
70. Zintzaras E, Stefanidis I, Santos M, Vidal F (2006) Do alcohol-metabolizing enzyme gene polymorphisms increase the risk of alcoholism and alcoholic liver disease?Hepatology43:352-361.