A haplotype analysis of CYP2E1 polymorphisms in relation to alcoholic phenotypes in Mexican Americans

Alcoholism: Clinical and Experimental Research

Volumn 31, Issue 12, 2007, Pages 1991-2000

  Yang, Min ^a   Tsuang, John ^b   Yvonne Wan, Yu Jui ^a  

^a UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^b HARBOR UCLA MEDICAL CENTER   (United States)

Author keywords

Alcoholism; CYP2E1; Haplotype; Mexican Americans; Polymorphisms

Indexed keywords

CYTOCHROME P450 2E1;

ADULT; ALCOHOLISM; ALLELE; ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HISPANIC; HUMAN; MAJOR CLINICAL STUDY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SMOKING; STATISTICAL SIGNIFICANCE;

ADULT; AGED; ALLELES; CYTOCHROME P-450 CYP2E1; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HEALTH SURVEYS; HETEROZYGOTE DETECTION; HUMANS; LINKAGE DISEQUILIBRIUM; LOS ANGELES; MALE; MEXICAN AMERICANS; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; REFERENCE VALUES; SMOKING; STATISTICS AS TOPIC;

EID: 36348997121     PISSN: 01456008     EISSN: 15300277     Source Type: Journal    
DOI: 10.1111/j.1530-0277.2007.00533.x     Document Type: Article

References (74)

1. Bhagwat SV, Vijayasarathy C, Raza H, Mullick J, Avadhani NG (1998) Preferential effects of nicotine and 4-(N-methyl-N-nitrosamine)-1-(3-pyridyl)-1- butanone on mitochondrial glutathione S-transferase A4-4 induction and increased oxidative stress in the rat brain. Biochem Pharmacol 56 : 831 839.
2. Bierut LJ, Rice JP, Goate A, Foroud T, Edenberg H, Almasy L, Conneally PM, Crowe R, Hesselbrock V, Li TK, Nurnberger J, Porjesz B, Schuckit MA, Tischfield J, Begleiter H, Reich T (2002) Defining alcohol-related phenotypes in humans. The Collaborative Study on the Genetics of Alcoholism. Alcohol Res Health 26 : 208 213.
3. Bucholz KK, Cadoret R, Cloninger CR, Dinwiddie SH, Hesselbrock VM, Nurnberger JI Jr., Reich T, Schmidt I, Schuckit MA (1994) A new, semi-structured psychiatric interview for use in genetic linkage studies: a report on the reliability of the SSAGA. J Stud Alcohol 55 : 149 158.
4. Carr LG, Yi IS, Li TK, Yin SJ (1996) Cytochrome P4502E1 genotypes, alcoholism, and alcoholic cirrhosis in Han Chinese and Atayal Natives of Taiwan. Alcohol Clin Exp Res 20 : 43 46.
5. Carriere V, Berthou F, Baird S, Belloc C, Beaune P, de Waziers I (1996) Human cytochrome P450 2E1 (CYP2E1): from genotype to phenotype. Pharmacogenetics 6 : 203 211.
6. Cartmell MT, Schulz HU, O'Reilly DA, Yang BM, Kielstein V, Dunlop SP, Halangk W, Demaine AG, Kingsnorth AN (2005) Cytochrome P450 2E1 high activity polymorphism in alcohol abuse and end-organ disease. World J Gastroenterol 11 : 6445 6449.
7. Castillo T, Koop DR, Kamimura S, Triadafilopoulos G, Tsukamoto H (1992) Role of cytochrome P-450 2E1 in ethanol-, carbon tetrachloride- and iron-dependent microsomal lipid peroxidation. Hepatology 16 : 992 996.
8. Cichoz-Lach H, Partycka J, Nesina I, Wojcierowski J, Slomka M, Celinski K (2006) Genetic polymorphism of CYP2E1 and digestive tract alcohol damage among Polish individuals. Alcohol Clin Exp Res 30 : 878 882.
9. Cigler T, McHugh PF, Kapadia SU, Leal SM, Kreek MJ (2001) Novel and previously reported single-nucleotide polymorphisms in the human 5-HT(1B) receptor gene: no association with cocaine or alcohol abuse or dependence. Am J Med Genet 105 : 489 497.
10. Croucher PJ, Mascheretti S, Hampe J, Huse K, Frenzel H, Stoll M, Lu T, Nikolaus S, Yang SK, Krawczak M, Kim WH, Schreiber S (2003) Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Eur J Hum Genet 11 : 6 16.
11. Ehlers CL, Wall TL, Gilder DA, Carr LG (2004) Association of ALDH1 promoter polymorphisms with alcohol-related phenotypes in Southwest California Indians. Alcohol Clin Exp Res 28 : 1481 1486.
12. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296 : 2225 2229.
13. Girre C, Lucas D, Hispard E, Menez C, Dally S, Menez JF (1994) Assessment of cytochrome P4502E1 induction in alcoholic patients by chlorzoxazone pharmacokinetics. Biochem Pharmacol 47 : 1503 1508.
14. Grove J, Brown AS, Daly AK, Bassendine MF, James OF, Day CP (1998) The RsaI polymorphism of CYP2E1 and susceptibility to alcoholic liver disease in Caucasians: effect on age of presentation and dependence on alcohol dehydrogenase genotype. Pharmacogenetics 8 : 335 342.
15. Haufroid V, Buchet JP, Gardinal S, Lison D (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 : 453 458.
16. 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 (Tokyo) 110 : 559 565.
17. Heath A, Madden PA, Bucholz KK, Dinwiddie SH, Slutske WS, Bierut LJ, Rohrbaugh JW, Statham DJ, Dunne MP, Whitfield JB, Martin NG (1999) Genetic differences in alcohol sensitivity and the inheritance of alcoholism risk. Psychol Med 29 : 1069 1081.
18. Hildesheim A, Chen CJ, Caporaso NE, Cheng YJ, Hoover RN, Hsu MM, Levine PH, Chen IH, Chen JY, Yang CS (1995) Cytochrome P4502E1 genetic polymorphisms and risk of nasopharyngeal carcinoma: results from a case-control study conducted in Taiwan. Cancer Epidemiol Biomarkers Prev 4 : 607 610.
19. Howard LA, Ahluwalia JS, Lin SK, Sellers EM, Tyndale RF (2003) CYP2E1*1D regulatory polymorphism: association with alcohol and nicotine dependence. Pharmacogenetics 13 : 321 328.
20. Howard LA, Micu AL, Sellers EM, Tyndale RF (2001) Low doses of nicotine and ethanol induce CYP2E1 and chlorzoxazone metabolism in rat liver. J Pharmacol Exp Ther 299 : 542 550.
21. Ingelman-Sundberg M, Johansson I, Yin H, Terelius Y, Eliasson E, Clot P, Albano E (1993) Ethanol-inducible cytochrome P4502E1: genetic polymorphism, regulation, and possible role in the etiology of alcohol-induced liver disease. Alcohol 10 : 447 452.
22. Itoga S, Harada S, Nomura F (2001) Polymorphism of the 5'-flanking region of the CYP2E1 gene: an association study with alcoholism. Alcohol Clin Exp Res 25 (6 Suppl 11S 15S.
23. 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. Neuropsychobiology 38 : 218 221.
24. Kato S, Shields PG, Caporaso NE, Sugimura H, Trivers GE, Tucker MA, Trump BF, Weston A, Harris CC (1994) Analysis of cytochrome P450 2E1 genetic polymorphisms in relation to human lung cancer. Cancer Epidemiol Biomarkers Prev 3 : 515 518.
25. Kim RB, O'Shea D, Wilkinson GR (1995) Interindividual variability of chlorzoxazone 6-hydroxylation in men and women and its relationship to CYP2E1 genetic polymorphisms. Clin Pharmacol Ther 57 : 645 655.
26. 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 YJ (2003a) The ADH3*2 and CYP2E1 c2 alleles increase the risk of alcoholism in Mexican American men. Exp Mol Pathol 74 : 183 189.
27. Konishi T, Smith JL, Lin KM, Wan YJ (2003b) Influence of genetic admixture on polymorphisms of alcohol-metabolizing enzymes: analyses of mutations on the CYP2E1, ADH2, ADH3 and ALDH2 genes in a Mexican-American population living in the Los Angeles area. Alcohol Alcohol 38 : 93 94.
28. Konishi T, Luo HR, Calvillo M, Mayo MS, Lin KM, Wan YJ (2004) ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles. Alcohol Clin Exp Res 28 : 1145 1152.
29. Koop DR (1992) Oxidative and reproductive metabolism by cytochrome P4502E1. Faseb 6 : 724 730.
30. Koop DR, Coon MJ (1986) Ethanol oxidation and toxicity: role of alcohol P-450 oxygenase. Alcohol Clin Exp Res 10 (6 Suppl 44S 49S.
31. Kopun M, Propping P (1977) The kinetics of ethanol absorption and elimination in twins and supplementary repetitive experiments in singleton subjects. Eur J Clin Pharmacol 11 : 337 344.
32. Kostelnik ME, Iber FL (1973) Correlation of alcohol and tolbutamide blood clearance rates with microsomal alcohol-metabolizing enzyme activity. Am J Clin Nutr 26 : 161 164.
33. Lahiri DK, Nurnberger JI (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19 : 5444.
34. Lappalainen J, Eggert M, Ozaki N, Robin RW, Brown GL, Naukkarinen H, Virkkunen M, Linnoila M, Goldman D. (1998) Linkage of antisocial alcoholism to the serotonin 5-HT1B receptor gene in 2 populations. Arch Gen Psychiatry 55 : 989 994.
35. Lewontin RC, Kojima K (1960) The evolutionary dynamics of complex polymorphism. Evolution Int J Org Evolution 14 : 450 472.
36. Lieber CS (1994) Mechanisms of ethanol-drug-nutrition interactions. J Toxicol Clin Toxicol 32 : 631 681.
37. Lieber CS (1999) Microsomal ethanol-oxidizing system (MEOS): the first 30 years (1968-1998) - a review. Alcohol Clin Exp Res 23 : 991 1007.
38. Long JR, Zhao LJ, Liu PY, Lu Y, Dvornyk V, Shen H, Liu YJ, Zhang YY, Xiong DH, Xiao P, Deng HW (2004) Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes. BMC Genet 5 : 11.
39. Lucas D, Ferrara R, Gonzalez E, Bodenez P, Albores A, Manno M, Berthou F (1999) Chlorzoxazone, a selective probe for phenotyping CYP2E1 in humans. Pharmacogenetics 9 : 377 388.
40. Lucas D, Menez C, Floch F, Gourlaouen Y, Sparfel O, Joannet I, Bodenez P, Jezequel J, Gouerou H, Berthou F, Bardou LG, Menez JF (1996) Cytochromes P4502E1 and P4501A1 genotypes and susceptibility to cirrhosis or upper aerodigestive tract cancer in alcoholic caucasians. Alcohol Clin Exp Res 20 : 1033 1037.
41. Lucas D, Menez C, Girre C, Berthou F, Bodenez P, Joannet I, Hispard E, Bardou LG, Menez JF (1995) Cytochrome P450 2E1 genotype and chlorzoxazone metabolism in healthy and alcoholic Caucasian subjects. Pharmacogenetics 5 : 298 304.
42. Luo HR, Hou ZF, Wu J, Zhang YP, Wan YJ (2005) Evolution of the DRD2 gene haplotype and its association with alcoholism in Mexican Americans. Alcohol 36 : 117 125.
43. Martinez C, Agundez JA, Olivera M, Llerena A, Ramirez R, Hernandez M, Benitez J (1998) Influence of genetic admixture on polymorphisms of drug-metabolizing enzymes: analyses of mutations on NAT2 and C gamma P2E1 genes in a mixed Hispanic population. Clin Pharmacol Ther 63 : 623 628.
44. Matsumoto H, Matsubayashi K, Fukui Y (1996) Evidence that cytochrome P-4502E1 contributes to ethanol elimination at low doses: effects of diallyl sulfide and 4-methyl pyrazole on ethanol elimination in the perfused rat liver. Alcohol Clin Exp Res 20 (1 Suppl 12A 16A.
45. McCarver DG, Byun R, Hines RN, Hichme M, Wegenek W (1998) A genetic polymorphism in the regulatory sequences of human CYP2E1: association with increased chlorzoxazone hydroxylation in the presence of obesity and ethanol intake. Toxicol Appl Pharmacol 152 : 276 281.
46. Montano Loza AJ, Ramirez Iglesias MT, Perez Diaz I, Cruz Castellanos S, Garcia Andrade C, Medina Mora ME, Robles Diaz G, Kershenobich D, Gutierrez Reyes G (2006) Association of alcohol-metabolizing genes with alcoholism in a Mexican Indian (Otomi) population. Alcohol 39 : 73 79.
47. Munoz S, Vollrath V, Vallejos MP, Miquel JF, Covarrubias C, Raddatz A, Chianale J (1998) Genetic polymorphisms of CYP2D6, CYP1A1 and CYP2E1 in the South-Amerindian population of Chile. Pharmacogenetics 8 : 343 351.
48. Nomura F, Itoga S, Uchimoto T, Tomonaga T, Nezu M, Shimada H, Ochiai T (2003) Transcriptional activity of the tandem repeat polymorphism in the 5′-flanking region of the human CYP2E1 gene. Alcohol Clin Exp Res 27 (8 Suppl 42S 46S.
49. Parsian A, Cloninger CR, Zhang ZH (1998) Association studies of polymorphisms of CYP2E1 gene in alcoholics with cirrhosis, antisocial personality, and normal controls. Alcohol Clin Exp Res 22 : 888 891.
50. Pastorelli R, Bardazzi G, Saieva C, Cerri A, Gestri D, Allamani A, Airoldi L, Palli D (2001) Genetic determinants of alcohol addiction and metabolism: a survey in Italy. Alcohol Clin Exp Res 25 : 221 227.
51. Persson I, Johansson I, Bergling H, Dahl ML, Seidegard J, Rylander R, Rannug A, Hogberg J, Sundberg MI (1993) Genetic polymorphism of cytochrome P4502E1 in a Swedish population. Relationship to incidence of lung cancer. FEBS Lett 319 : 207 211.
52. Pirmohamed M, Kitteringham NR, Quest LJ, Allott RL, Green VJ, Gilmore IT, Park BK (1995) Genetic polymorphism of cytochrome P4502E1 and risk of alcoholic liver disease in Caucasians. Pharmacogenetics 5 : 351 357.
53. Plee-Gautier E, Foresto F, Ferrara R, Bodenez P, Simon B, Manno M, Berthou F, Lucas D (2001) Genetic repeat polymorphism in the regulating region of CYP2E1: frequency and relationship with enzymatic activity in alcoholics. Alcohol Clin Exp Res 25 : 800 804.
54. Powell H, Kitteringham NR, Pirmohamed M, Smith DA, Park BK (1998) Expression of cytochrome P4502E1 in human liver: assessment by mRNA, genotype and phenotype. Pharmacog Pharmacogenet 8 : 411 421.
55. Saccone NL, Corbett J, Goate A, Rochberg N, Edenberg HJ, Foroud T, Li TK, Begleiter H, Reich T, Rice JP (2000) A genome screen of maximum number of drinks as an alcoholism Phenotype. Am J Med Genet (Neuropsychiatric Genetics) 96 : 632 637.
56. Savolainen VT, Pajarinen J, Perola M, Penttila A, Karhunen PJ (1997) Polymorphism in the cytochrome P450 2E1 gene and the risk of alcoholic liver disease. J Hepatol 26 : 55 61.
57. Schneider S, Roessli D, Excoffier L (2000) ARLEQUIN Ver 2.0: A Software for Population Genetic Data Analysis. University of Geneva, Switzerland.
58. Shea SH, Carr LG, Li TK (2001) ADH2 and alcohol-related phenotypes in Ashkenazic Jewish American college students. Behav Genet 31 : 231 239.
59. Slatkin M (1996) Testing for linkage disequilibrium in genotypic data using the expectation-maximization algorithm. Heredity 76 (Pt 4 377 383.
60. Spivak B, Maman Z, Aharonovich E, Alderson D, Carr LG, Weizman A, Hasin D (2007) Effect of ADH1B genotype on alcohol consumption in young Israeli Jews. Alcohol Clin Exp Res 31 : 1297 1301.
61. Stephens JC, Schneider JA, Tanguay DA, Choi J, Acharya T, Stanley SE, Jiang R, Messer CJ, Chew A, Han JH, Duan J, Carr JL, Lee MS, Koshy B, Kumar AM, Zhang G, Newell WR, Windemuth A, Xu C, Kalbfleisch TS, Shaner SL, Arnold K, Schulz V, Drysdale CM, Nandabalan K, Judson RS, Ruano G, Vovis GF (2001a) Haplotype variation and linkage disequilibrium in 313 human genes. Science 293 : 489 493.
62. Stephens M, Smith NJ, Donnelly P (2001b) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68 : 978 989.
63. Stephens EA, Taylor JA, Kaplan N, Yang CH, Hsieh LL, Lucier GW, Bell DA (1994) Ethnic variation in the CYP2E1 gene: polymorphism analysis of 695 African-Americans, European-Americans and Taiwanese. Pharmacogenetics 4 : 185 192.
64. Sun F, Tsuritani I, Yamada Y (2002) Contribution of genetic polymorphisms in ethanol-metabolizing enzymes to problem drinking behavior in middle-aged Japanese men. Behav Genet 32 : 229 236.
65. Tanaka F, Shiratori Y, Yokosuka O, Imazeki F, Tsukada Y, Omata M (1997) Polymorphism of alcohol-metabolizing genes affects drinking behavior and alcoholic liver disease in Japanese Men. Alcohol Clin Exp Res 21 : 596 601.
66. Tsutsumi M, Takada A, Wang JS (1994) Genetic polymorphisms of cytochrome P4502E1 related to the development of alcoholic liver disease. Gastroenterology 107 : 1430 1435.
67. Uchimoto T, Itoga S, Nezu M, Sunaga M, Tomonaga T, Nomura F (2007) Role of the genetic polymorphisms in the 5′-flanking region for transcriptional regulation of the human CYP2E1 gene. Alcohol Clin Exp Res 31 (1 Suppl S36 S42.
68. Vidal F, Lorenzo A, Auguet T, Olona M, Broch M, Gutierrez C, Aguilar C, Estupina 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 Hepatol 41 : 744 750.
69. Wall TL, Ehlers CL (2003) Protective association of genetic variation in alcohol dehydrogenase with alcohol dependence in Native American Mission Indians. Am J Psychiatry 160 : 41 46.
70. Watanabe J, Hayashi S-I, Kawajiri K (1994) Different regulation and expression of the human CYP2E1 gene due to the RsaI polymorphism in the 5'-flanking region. J Biochem 116 : 321 326.
71. Wong NA, Rae F, Simpson KJ, Murray GD, Harrison DJ (2000) 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 53 : 88 93.
72. Wu X, Amos CI, Kemp BL, Shi H, Jiang H, Wan Y, Spitz MR (1998) Cytochrome P450 2E1 DraI polymorphisms in lung cancer in minority populations. Cancer Epidemiol Biomarkers Prev 7 : 13 18.
73. Yu MW, Gladek-Yarborough A, Chiamprasert S, Santella RM, Liaw YF, Chen CJ (1995) Cytochrome P450 2E1 and glutathione S-transferase M1 polymorphisms and susceptibility to hepatocellular carcinoma. Gastroenterology 109 : 1266 1273.
74. Zhao H, Pfeiffer R, Gail MH (2003) Haplotype analysis in population genetics and association studies. Pharmacogenomics 4 : 171 178.