Association Between In Vivo Alcohol Metabolism and Genetic Variation in Pathways that Metabolize the Carbon Skeleton of Ethanol and NADH Reoxidation in the Alcohol Challenge Twin Study

Alcoholism: Clinical and Experimental Research

Volumn 36, Issue 12, 2012, Pages 2074-2085

  Lind, Penelope A ^a   Macgregor, Stuart ^a   Heath, Andrew C ^b   Madden, Pamela A F ^b   Montgomery, Grant W ^a   Martin, Nicholas G ^a   Whitfield, John B ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b WASHINGTON UNIVERSITY   (United States)

Author keywords

Alcohol Challenge; Alcohol Metabolism; Association; CYP2E1; Genetics

Indexed keywords

ACN9 PROTEIN; ACSS1 PROTEIN; ACSS2 PROTEIN; ALCOHOL; ALDH1A1 PROTEIN; CARBON; CAT PROTEIN; CYTOCHROME P450 2E1; GOT1 PROTEIN; GOT2 PROTEIN; MDH1 PROTEIN; MDH2 PROTEIN; PEPTIDES AND PROTEINS; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; SLC25A10 PROTEIN; SLC25A11 PROTEIN; SLC25A12 PROTEIN; SLC25A13 PROTEIN; UNCLASSIFIED DRUG;

ABSORPTION; ADULT; ALCOHOL BLOOD LEVEL; ALCOHOL METABOLISM; ARTICLE; BLOOD LEVEL; BREATH ALCOHOL CONCENTRATION; CHROMOSOME 17; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPING TECHNIQUE; HUMAN; IN VIVO STUDY; MALE; NORMAL HUMAN; OXIDATION; PEAK ALCOHOL CONCENTRATION; PRIORITY JOURNAL; REOXIDATION; SINGLE NUCLEOTIDE POLYMORPHISM; TWINS;

ADOLESCENT; ADULT; CYTOCHROME P-450 CYP2E1; ETHANOL; FEMALE; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; NAD; OXIDATION-REDUCTION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC; YOUNG ADULT;

EID: 84870942779     PISSN: 01456008     EISSN: 15300277     Source Type: Journal    
DOI: 10.1111/j.1530-0277.2012.01829.x     Document Type: Article

References (55)

1. Abecasis GR, Cardon LR, Cookson WO (2000) A general test of association for quantitative traits in nuclear families. Am J Hum Genet 66:279-292.
2. Agarwal DP (2001) Genetic polymorphisms of alcohol metabolizing enzymes. Pathol Biol (Paris) 49:703-709.
3. Agarwal DP, Goedde HW (1992) Pharmacogenetics of alcohol metabolism and alcoholism. Pharmacogenetics 2:48-62.
4. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265.
5. Birley AJ, James MR, Dickson PA, Montgomery GW, Heath AC, Martin NG, Whitfield JB (2009) ADH single nucleotide polymorphism associations with alcohol metabolism in vivo. Hum Mol Genet 18:1533-1542.
6. Birley AJ, James MR, Dickson PA, Montgomery GW, Heath AC, Whitfield JB, Martin NG (2008) Association of the gastric alcohol dehydrogenase gene ADH7 with variation in alcohol metabolism. Hum Mol Genet 17:179-189.
7. Birley AJ, Whitfield JB, Neale MC, Duffy DL, Heath AC, Boomsma DI, Martin NG (2005) Genetic time-series analysis identifies a major QTL for in vivo alcohol metabolism not predicted by in vitro studies of structural protein polymorphism at the ADH1B or ADH1C loci. Behav Genet 35:509-524.
8. Borst P (1963) Functionelle und Morphologische Organisation der Zelle. Springer-Varlag, Berlin.
9. Chen YC, Peng GS, Wang MF, Tsao TP, Yin SJ (2009) Polymorphism of ethanol-metabolism genes and alcoholism: correlation of allelic variations with the pharmacokinetic and pharmacodynamic consequences. Chem Biol Interact 178:2-7.
10. Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N (2001) Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann Neurol 50:202-207.
11. Deng XS, Deitrich RA (2008) Putative role of brain acetaldehyde in ethanol addiction. Curr Drug Abuse Rev 1:3-8.
12. Dennis RA, McCammon MT (1999) Acn9 is a novel protein of gluconeogenesis that is located in the mitochondrial intermembrane space. Eur J Biochem 261:236-243.
13. Dick DM, Aliev F, Wang JC, Saccone S, Hinrichs A, Bertelsen S, Budde J, Saccone N, Foroud T, Nurnberger J Jr, Xuei X, Conneally PM, Schuckit M, Almasy L, Crowe R, Kuperman S, Kramer J, Tischfield JA, Hesselbrock V, Edenberg HJ, Porjesz B, Rice JP, Bierut L, Goate A (2008) A systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9. Biol Psychiatry 63:1047-1053.
14. Dickson PA, James MR, Heath AC, Montgomery GW, Martin NG, Whitfield JB, Birley AJ (2006) Effects of variation at the ALDH2 locus on alcohol metabolism, sensitivity, consumption, and dependence in Europeans. Alcohol Clin Exp Res 30:1093-1100.
15. Edenberg HJ, Xuei X, Chen HJ, Tian H, Wetherill LF, Dick DM, Almasy L, Bierut L, Bucholz KK, Goate A, Hesselbrock V, Kuperman S, Nurnberger J, Porjesz B, Rice J, Schuckit M, Tischfield J, Begleiter H, Foroud T (2006) Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis. Hum Mol Genet 15:1539-1549.
16. Ehlers CL, Spence JP, 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.
17. Ferreira MA, Purcell SM (2009) A multivariate test of association. Bioinformatics 25:132-133.
18. Hashibe M, McKay JD, Curado MP, Oliveira JC, Koifman S, Koifman R, Zaridze D, Shangina O, Wunsch-Filho V, Eluf-Neto J, Levi JE, Matos E, Lagiou P, Lagiou A, Benhamou S, Bouchardy C, Szeszenia-Dabrowska N, Menezes A, Dall'Agnol MM, Merletti F, Richiardi L, Fernandez L, Lence J, Talamini R, Barzan L, Mates D, Mates IN, Kjaerheim K, Macfarlane GJ, Macfarlane TV, Simonato L, Canova C, Holcatova I, Agudo A, Castellsague X, Lowry R, Janout V, Kollarova H, Conway DI, McKinney PA, Znaor A, Fabianova E, Bencko V, Lissowska J, Chabrier A, Hung RJ, Gaborieau V, Boffetta P, Brennan P (2008) Multiple ADH genes are associated with upper aerodigestive cancers. Nat Genet 40:707-709.
19. Haufroid V, Buchet JP, Gardinal S, Ghittori S, Imbriani M, Hirvonen A, Lison D (2001) Importance of genetic polymorphisms of drug metabolizing enzymes for the interpretation of biomarkers of exposure to styrene. Biomarkers 6:236-239.
20. 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 110:559-565.
21. Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL (2010) Human variation in alcohol response is influenced by variation in neuronal signaling genes. Alcohol Clin Exp Res 34:800-812.
22. Kiyoshi A, Weihuan W, Mostofa J, Mitsuru K, Toyoshi I, Toshihiro K, Kyoko K, Keiichi N, Iwao I, Hiroshi K (2009) Ethanol metabolism in ALDH2 knockout mice-blood acetate levels. Leg Med (Tokyo) 11(Suppl 1):S413-S415.
23. Konishi T, Smith JL, Lin KM, Wan YJ (2003) 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.
24. 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.
25. Kuo PH, Kalsi G, Prescott CA, Hodgkinson CA, Goldman D, van den Oord EJ, Alexander J, Jiang C, Sullivan PF, Patterson DG, Walsh D, Kendler KS, Riley BP (2008) Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample. Alcohol Clin Exp Res 32:785-795.
26. Lands WE (1998) A review of alcohol clearance in humans. Alcohol 15:147-160.
27. Li Y, Abecasis GR (2006) Mach 1.0: rapid haplotype reconstruction and missing genotype inference. Am J Hum Genet 79:2290.
28. Lieber CS (1994) Mechanisms of ethanol-drug-nutrition interactions. J Toxicol Clin Toxicol 32:631-681.
29. Lieber CS (1999) Microsomal ethanol-oxidizing system (MEOS): the first 30 years (1968-1998)-a review. Alcohol Clin Exp Res 23:991-1007.
30. Lieber CS (2003) Relationships between nutrition, alcohol use, and liver disease. Alcohol Res Health 27:220-231.
31. Lind PA, Eriksson CJ, Wilhelmsen KC (2008) The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population. Hum Genomics 3:24-35.
32. Lindros KO, Vihma R, Forsander OA (1972) Utilization and metabolic effects of acetaldehyde and ethanol in the perfused rat liver. Biochem J 126:945-952.
33. Liu J, Zhou Z, Hodgkinson CA, Yuan Q, Shen PH, Mulligan CJ, Wang A, Gray RR, Roy A, Virkkunen M, Goldman D, Enoch MA (2010) Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations. Alcohol Clin Exp Res 35:304-316.
34. 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.
35. Luo X, Kranzler HR, Zuo L, Wang S, Schork NJ, Gelernter J (2006) Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence. Am J Hum Genet 78:973-987.
36. Macgregor S, Lind PA, Bucholz KK, Hansell NK, Madden PA, Richter MM, Montgomery GW, Martin NG, Heath AC, Whitfield JB (2009) Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis. Hum Mol Genet 18:580-593.
37. Martin NG, Perl J, Oakeshott JG, Gibson JB, Starmer GA, Wilks AV (1985) A twin study of ethanol metabolism. Behav Genet 15:93-109.
38. McEvoy BP, Montgomery GW, McRae AF, Ripatti S, Perola M, Spector TD, Cherkas L, Ahmadi KR, Boomsma D, Willemsen G, Hottenga JJ, Pedersen NL, Magnusson PK, Kyvik KO, Christensen K, Kaprio J, Heikkila K, Palotie A, Widen E, Muilu J, Syvanen AC, Liljedahl U, Hardiman O, Cronin S, Peltonen L, Martin NG, Visscher PM (2009) Geographical structure and differential natural selection among North European populations. Genome Res 19:804-814.
39. Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG (2009) Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet 85:750-755.
40. Meijer AJ, van Woerkom GM, Williamson JR, Tager JM (1975) Rate-limiting factors in the oxidation of ethanol by isolated rat liver cells. Biochem J 150:205-209.
41. Neumark YD, Friedlander Y, Thomasson HR, Li TK (1998) Association of the ADH2*2 allele with reduced ethanol consumption in Jewish men in Israel: a pilot study. J Stud Alcohol 59:133-139.
42. Nyholt DR (2004) A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 74:765-769.
43. Purcell S, Cherny SS, Sham PC (2003) Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19:149-150.
44. Quertemont E (2004) Genetic polymorphism in ethanol metabolism: acetaldehyde contribution to alcohol abuse and alcoholism. Mol Psychiatry 9:570-581.
45. Raimondi S, Benhamou S, Coutelle C, Garte S, Hayes R, Kiemeney L, Lazarus P, Marchand LL, Morita S, Povey A, Romkes M, Zijno A, Taioli E (2004) Association of metabolic gene polymorphisms with alcohol consumption in controls. Biomarkers 9:180-189.
46. Schoedel KA, Tyndale RF (2003) Induction of nicotine-metabolizing CYP2B1 by ethanol and ethanol-metabolizing CYP2E1 by nicotine: summary and implications. Biochim Biophys Acta 1619:283-290.
47. Schuckit MA, Smith TL, Anderson KG, Brown SA (2004) Testing the level of response to alcohol: social information processing model of alcoholism risk-a 20-year prospective study. Alcohol Clin Exp Res 28:1881-1889.
48. Tanaka E, Terada M, Misawa S (2000) Cytochrome P450 2E1: its clinical and toxicological role. J Clin Pharm Ther 25:165-175.
49. The International HapMap Consortium. (2003) The International HapMap Project. Nature 426:789-796.
50. Vesell ES (1972) Ethanol metabolism: regulation by genetic factors in normal volunteers under a controlled environment and the effect of chronic ethanol administration. Ann N Y Acad Sci 197:79-88.
51. Vesell ES, Page JG, Passananti GT (1971) Genetic and environmental factors affecting ethanol metabolism in man. Clin Pharmacol Ther 12:192-201.
52. 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 Biochem 116:321-326.
53. 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 Res 35:10-18.
54. Whitfield JB, Nightingale BN, Bucholz KK, Madden PA, Heath AC, Martin NG (1998) ADH genotypes and alcohol use and dependence in Europeans. Alcohol Clin Exp Res 22:1463-1469.
55. Yoshida A (1992) Molecular genetics of human aldehyde dehydrogenase. Pharmacogenetics 2:139-147.