ADH single nucleotide polymorphism associations with alcohol metabolism in vivo

Human Molecular Genetics

Volumn 18, Issue 8, 2009, Pages 1533-1542

  Birley, Andrew J ^a   James, Michael R ^a   Dickson, Peter A ^a   Montgomery, Grant W ^a   Heath, Andrew C ^b   Martin, Nicholas G ^a   Whitfield, John B ^a  

^a ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^b WASHINGTON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL DEHYDROGENASE;

ALCOHOL METABOLISM; ALCOHOLISM; ARTICLE; BLOOD ANALYSIS; BREATH ANALYSIS; FEMALE; GENETIC ASSOCIATION; HUMAN; IN VIVO STUDY; MALE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS MAPPING; SINGLE NUCLEOTIDE POLYMORPHISM;

ALCOHOL DEHYDROGENASE; ALCOHOLISM; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 64549103776     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp060     Document Type: Article

References (48)

1. Jones, A.W. (1984) Interindividual variations in the disposition and metabolism of ethanol in healthy men. Alcohol, 1, 385-391.
2. Martin, N.G., Perl, J., Oakeshott, J.G., Gibson, J.B., Starmer, G.A. and Wilks, A.V. (1985) A twin study of ethanol metabolism. Behav. Genet. 15, 93-109.
3. Kopun, M. and 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.
4. Jones, A.W. and Jonsson, K.A. (1994) Between-subject and within-subject variations in the pharmacokinetics of ethanol. Br. J. Clin. Pharmacol., 37, 427-431.
5. Norberg, A., Gabrielsson, J., Jones, A.W. and Hahn, R.G. (2000) Within-and between-subject variations in pharmacokinetic parameters of ethanol by analysis of breath, venous blood and urine. Br. J. Clin. Pharmacol., 49, 399-408.
6. Vesell, E.S., Page, J.G. and Passananti, G.T. (1971) Genetic and environmental factors affecting ethanol metabolism in man. Clin. Pharmacol. Ther., 12, 192-201.
7. Birley, A.J., Whitfield, J.B., Neale, M.C., Duffy, D.L., Heath, A.C., Boomsma, D.I. and Martin, N.G. (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. Duester, G., Hatfield, G.W. and Smith, M. (1985) Molecular genetic analysis of human alcohol dehydrogenase. Alcohol, 2, 53-56.
9. Gonzalez-Duarte, R. and Albalat, R. (2005) Merging protein, gene and genomic data: The evolution of the MDR-ADH family. Heredity, 95 184-197.
10. Farres, J., Moreno, A., Crosas, B., Peralba, J.M., Allali-Hassani, A., Hjelmqvist, L., Jornvall, H. and Pares, X. (1994) Alcohol dehydrogenase of class IV (sigma sigma-ADH) from human stomach. cDNA sequence and structure/function relationships. Eur. J. Biochem., 224, 549-557.
11. Bosron, W.F. and Li, T.K. (1986) Genetic polymorphism of human liver alcohol and aldehyde dehydrogenases, and their relationship to alcohol metabolism and alcoholism. Hepatology, 6, 502-510.
12. Birley, A.J., James, M.R., Dickson, P.A., Montgomery, G.W., Heath, A.C., Whitfield, J.B. and Martin, N.G. (2008) Association of the gastric alcohol dehydrogenase gene ADH7 with variation in alcohol metabolism. Hum. Mol. Genet., 17, 179-189.
13. Higuchi, S. (1994) Polymorphisms of ethanol metabolizing enzyme genes and alcoholism. Alcohol Alcohol Suppl., 30, 29-34.
14. Chen, W.J., Loh, E.W., Hsu, Y.P., Chen, C.C., Yu, J.M. and Cheng, A.T. (1996) Alcohol-metabolising genes and alcoholism among Taiwanese Han men: Independent effect of ADH2, ADH3 and ALDH2. Br. J. Psychiatry 168, 762-767.
15. Whitfield, J.B., Nightingale, B.N., Bucholz, K.K., Madden, P.A., Heath, A.C. and Martin, N.G. (1998) ADH genotypes and alcohol use and dependence in Europeans. Alcohol. Clin. Exp. Res., 22, 1463-1469.
16. Osier, M., Pakstis, A.J., Kidd, J.R., Lee, J.F., Yin, S.J., Ko, H.C., Edenberg, H.J., Lu, R.B. and Kidd, K.K. (1999) Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism. Am. J. Hum. Genet., 64, 1147-1157.
17. Borras, E., Coutelle, C., Rosell, A., Fernandez-Muixi, F., Broch, M., Crosas, B., Hjelmqvist, L., Lorenzo, A. and Gutierrez, C. (2000) Genetic polymorphism of alcohol dehydrogenase in europeans: The ADH2*2 allele decreases the risk for alcoholism and is associated with ADH3*1. Hepatology, 31, 984-989.
18. Ehlers, C.L., Carr, L., Betancourt, M. and Montane-Jaime, K. (2003) Association of the ADH2*3 allele with greater alcohol expectancies in African-American young adults. J. Stud. Alcohol, 64, 176-181.
19. Ehlers, C.L., Montane-Jaime, K., Moore, S., Shafe, S., Joseph, R. and Carr, L.G. (2007) Association of the ADHIB*3 allele with alcohol-related phenotypes in Trinidad. Alcohol. Clin. Exp. Res., 31, 216-220.
20. Luo, X., Kranzler, H.R., Zuo, L., Wang, S., Schork, N.J. and 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.
21. Choi, I.G., Son, H.G., Yang, B.H., Kim, S.H., Lee, J.S., Chai, Y.G., Son, B.K., Kee, B.S., Park, B.L., Kim, L.H. et al. (2005) Scanning of genetic effects of alcohol metabolism gene (ADH1B and ADH1C polymorphisms on the risk of alcoholism. Hum. Mutat., 26 224-234.
22. Edenberg, H.J., Xuei, X., Chen, H.J., Tian, H., Wetherill, L.F., Dick, D.M., Almasy, L., Bierut, L., Bucholz, K.K., Goate, A. et al. (2006) Association of alcohol dehydrogenase genes with alcohol dependence: A comprehensive analysis. Hum. Mol. Genet., 15, 1539-1549.
23. Kuo, P.H., Kalsi, G., Prescott, C.A., Hodgkinson, C.A., Goldman, D., van den Oord, E.J., Alexander, J., Jiang, C., Sullivan, P.F., Patterson, D.G. et al. (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.
24. Macgregor, S., Lind, P.A., Bucholz, K.K., Hansell, N.K., Madden, P.A.F., Richter, M.M., Montgomery, G.W., Martin, N.G., Heath, A.C. and Whitfield, J.B. (2009) Associations of ADH and ALDH2 gene variation with alcohol reactions, consumption and dependence: An integrated analysis. Hum. Mol. Genet., 18, 580-593.
25. Hashibe, M., McKay, J.D., Curado, M.P., Oliveira, J.C., Koifman, S., Koifman, R., Zaridze, D., Shangina, O., Wunsch-Filho, V., Eluf-Neto, J. et al. (2008) Multiple ADH genes are associated with upper aerodigestive cancers. Nat. Genet., 40, 707-709.
26. Whitfield, J.B. (2002) Alcohol dehydrogenase and alcohol dependence: variation in genotype-associated risk between populations. Am. J. Hum. Genet., 71, 1247-1250.
27. Eng, M.Y., Luczak, S.E. and Wall, T.L. (2007) ALDH2, ADH1B, and ADH1C genotypes in Asians: A literature review. Alcohol Res. Health, 30, 22-27.
28. Whitfield, J.B., Zhu, G., Duffy, D.L., Birley, A.J., Madden, P.A., Heath, A.C. and Martin, N.G. (2001) Variation in alcohol pharmacokinetics as a risk factor for alcohol dependence. Alcohol. Clin. Exp. Res., 25, 1257-1263.
29. Yamamoto, K., Ueno, Y., Mizoi, Y. and Tatsuno, Y. (1993) Genetic polymorphism of alcohol and aldehyde dehydrogenase and the effects on alcohol metabolism. Arukoru Kenkyuto Yakubutsu Ison, 28, 13-25.
30. Mizoi, Y., Yamamoto, K., Ueno, Y., Fukunaga, T. and Harada, S. (1994) Involvement of genetic polymorphism of alcohol and aldehyde dehydrogenases in individual variation of alcohol metabolism. Alcohol Alcohol., 29, 707-710.
31. Thomasson, H.R., Beard, J.D. and Li, T.K. (1995) ADH2 gene polymorphisms are determinants of alcohol pharmacokinetics. Alcohol. Clin. Exp. Res., 19, 1494-1499.
32. Long, J.C., Knowler, W.C., Hanson, R.L., Robin, R.W., Urbanek, M., Moore, E., Bennett, P.H. and Goldman, D. (1998) Evidence for genetic linkage to alcohol dependence on chromosomes 4 and 11 from an autosome-wide scan in an American Indian population. Am. J. Med. Genet., 81, 216-221.
33. Reich, T., Edenberg, H.J., Goate, A., Williams, J.T., Rice, J.P., Van Eerdewegh, P., Foroud, T., Hesselbrock, V., Schuckit, M.A., Bucholz, K. et al. (1998) Genome-wide search for genes affecting the risk for alcohol dependence. Am. J. Med. Genet., 81, 207-215.
34. Williams, J.T., Begleiter, H., Porjesz, B., Edenberg, H.J., Foroud, T., Reich, T., Goate, A., Van Eerdewegh, P., Almasy, L. and Blangero, J. (1999) Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. II. Alcoholism and event-related potentials. Am. J. Hum. Genet., 65, 1148-1160.
35. Lorenzo, A., Auguet, T., Vidal, F., Broch, M., Olona, M., Gutierrez, C., Lopez-Dupla, M., Sirvent, J.J., Quer, J.C., Santos, M. et al. (2006) Polymorphisms of alcohol-metabolizing enzymes and the risk for alcoholism and alcoholic liver disease in Caucasian Spanish women. Drug Alcohol Depend., 84, 195-200.
36. Lee, H.C., Lee, H.S., Jung, S.H., Yi, S.Y., Jung, H.K., Yoon, J.H. and Kim, C.Y. (2001) Association between polymorphisms of ethanol-metabolizing enzymes and susceptibility to alcoholic cirrhosis in a Korean male population. J. Korean Med. Sci., 16, 745-750.
37. Neumark, Y.D., Friedlander, Y., Durst, R., Leitersdorf, E., Jaffe, D., Ramchandani, V.A., O'Connor, S., Carr, L.G. and Li, T.K. (2004) Alcohol dehydrogenase polymorphisms influence alcohol-elimination rates in a male Jewish population. Alcohol. Clin. Exp. Res., 28, 10-14.
38. Edenberg, H.J. (2000) Regulation of the mammalian alcohol dehydrogenase genes. Prog. Nucleic Acid Res. Mol. Biol, 64, 295-341.
39. Su, J.S., Tsai, T.F., Chang, H.M., Chao, K.M., Su, T.S. and Tsai, S.F. (2006) Distant HNF1 site as a master control for the human class I alcohol dehydrogenase gene expression. J. Biol. Chem., 281, 19809-19821.
40. Edenberg, H.J., Jerome, R.E. and Li, M. (1999) Polymorphism of the human alcohol dehydrogenase 4 (ADH4) promoter affects gene expression. Pharmacogenetics, 9, 25-30.
41. Chen, H.J., Tian, H. and Edenberg, H.J. (2005) Natural haplotypes in the regulatory sequences affect human alcohol dehydrogenase 1C (ADH1C) gene expression. Hum. Mutat., 25, 150-155.
42. Vawter, M.P., Atz, M.E., Rollins, B.L., Cooper-Casey, KM., Shao, L. and Byerley, W.F. (2006) Genome scans and gene expression microarrays converge to identify gene regulatory loci relevant in schizophrenia. Hum. Genet., 119, 558-570.
43. Dixon, A.L., Liang, L., Moffatt, M.F., Chen, W., Heath, S., Wong, K.C., Taylor, J., Burnett, E., Gut, I., Farrall, M. et al. (2007) A genome-wide association study of global gene expression. Nat. Genet. 39, 1202-1207.
44. Schadt, E.E., Molony, C., Chudin, E., Hao, K, Yang, X., Lum, P.Y., Kasarskis, A., Zhang, B., Wang, S., Suver, C. et al. (2008) Mapping the genetic architecture of gene expression in human liver. PLoS Biol., 6, e107.
45. Wigginton, J.E. and Abecasis, G.R. (2005) PEDSTATS: Descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics, 21, 3445-3447.
46. Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet., 30, 97-101.
47. Neale, M.C. (1999) Mx: Statistical Modeling, 5th edn. Department of Psychiatry, Medical College of Virginia, Richmond, VA.
48. Martin, E., Moll, W., Schmid, P. and Dettli, L. (1984) The pharmacokinetics of alcohol in human breath, venous and arterial blood after oral ingestion. Eur J. Clin. Pharmacol., 26, 619-626.