Confirmation of ALDH2 as a major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population

Circulation Journal

Volumn 75, Issue 4, 2011, Pages 911-918

  Takeuchi, Fumihiko ^a   Isono, Masato ^a   Nabika, Toru ^b   Katsuya, Tomohiro ^c   Sugiyama, Takao ^d   Yamaguchi, Shuhei ^b   Kobayashi, Shotai ^e   Ogihara, Toshio ^c,f   Yamori, Yukio ^g   Fujioka, Akihiro ^h   Kato, Norihiro ^a  

^a NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

^b SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d INSTITUTE FOR ADULT DISEASES   (Japan)

^e SHIMANE UNIVERSITY HOSPITAL   (Japan)

^f OSAKA GENERAL MEDICAL CENTER   (Japan)

^g MUKOGAWA WOMEN'S UNIVERSITY   (Japan)

^h Amagasaki Health Medical Foundation   (Japan)

Author keywords

Alcohol; ALDH2; Asians; Genetic susceptibility; Genome wide association study

Indexed keywords

ALANINE AMINOTRANSFERASE; ALDEHYDE DEHYDROGENASE ISOENZYME 2; ASPARTATE AMINOTRANSFERASE; GAMMA GLUTAMYLTRANSFERASE; GLUTAMIC ACID; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LYSINE;

ADULT; AGED; ALCOHOL CONSUMPTION; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOVASCULAR RISK; CONTROLLED STUDY; DRINKING BEHAVIOR; ENZYME ACTIVITY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; JAPANESE; MALE; METABOLIC REGULATION; PHENOTYPE; PLEIOTROPY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; ALDEHYDE DEHYDROGENASE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CARDIOVASCULAR DISEASES; DRINKING BEHAVIOR; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 79953652683     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-10-0774     Document Type: Article

References (39)

1. Alkerwi A, Boutsen M, Vaillant M, Barre J, Lair ML, Albert A, et al. Alcohol consumption and the prevalence of metabolic syndrome: A meta-analysis of observational studies. Atherosclerosis 2009; 204: 624-635.
2. Rimm EB, Williams P, Fosher K, Criqui M, Stampfer MJ. Moderate alcohol intake and lower risk of coronary heart disease: Meta-analysis of effects on lipids and haemostatic factors. BMJ 1999; 319: 1523-1528.
3. Berger K, Ajani UA, Kase CS, Gaziano JM, Buring JE, Glynn RJ, et al. Light-to-moderate alcohol consumption and risk of stroke among U.S. male physicians. N Engl J Med 1999; 341: 1557-1564.
4. Koppes LL, Dekker JM, Hendriks HF, Bouter LM, Heine RJ. Moderate alcohol consumption lowers the risk of type 2 diabetes: A meta-analysis of prospective observational studies. Diabetes Care 2005; 28: 719-725.
5. Xin X, He J, Frontini MG, Ogden LG, Motsamai OI, Whelton PK. Effects of alcohol reduction on blood pressure: A meta-analysis of randomized controlled trials. Hypertension 2001; 38: 1112-1117.
6. Kato I, Kiyohara Y, Kubo M, Tanizaki Y, Arima H, Iwamoto H, et al. Insulin-mediated effects of alcohol intake on serum lipid levels in a general population: The Hisayama Study. J Clin Epidemiol 2003; 56: 196-204.
7. Rose RJ, Dick DM, Viken And RJ, Kaprio J. Gene-environment interaction in patterns of adolescent drinking: Regional residency moderates longitudinal influences on alcohol use. Alcohol Clin Exp Res 2001; 25: 637-643.
8. Bierut LJ, Agrawal A, Bucholz KK, Doheny KF, Laurie C, Pugh E, et al. A genome-wide association study of alcohol dependence. Proc Natl Acad Sci USA 2010; 107: 5082-5087.
9. Crabbe JC, Bell RL, Ehlers CL. Human and laboratory rodent low response to alcohol: Is better consilience possible? Addict Biol 2010; 15: 125-144.
10. Froehlich JC. What aspects of human alcohol use disorders can be modeled using selectively bred rat lines? Subst Use Misuse 2010; 45: 1727-1741.
11. Tsuchihashi-Makaya M, Serizawa M, Yanai K, Katsuya T, Takeuchi F, Fujioka A, et al. Gene-environmental interaction regarding alcohol-metabolizing enzymes in the Japanese general population. Hypertens Res 2009; 32: 207-213.
12. Linneberg A, Gonzalez-Quintela A, Vidal C, Jørgensen T, Fenger M, Hansen T, et al. Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians. Clin Exp Allergy 2010; 40: 123-130.
13. Chen YC, Peng GS, Wang MF, Tsao TP, Yin SJ. Polymorphism of ethanol-metabolism genes and alcoholism: Correlation of allelic variations with the pharmacokinetic and pharmacodynamic consequences. Chem Biol Interact 2009; 178: 2-7.
14. Yamada Y, Imai T, Ishizaki M, Honda R. ALDH2 and CYP2E1 genotypes, urinary acetaldehyde excretion and the health consequences in moderate alcohol consumers. J Hum Genet 2006; 51: 104-111.
15. Hiura Y, Tabara Y, Kokubo Y, Okamura T, Goto Y, Nonogi H, et al. Association of the functional variant in the 3-hydroxy-3-methylglutaryl-coenzyme a reductase gene with low-density lipoproteincholesterol in Japanese. Circ J 2010; 74: 518-522.
16. Takeuchi F, Isono M, Katsuya T, Yamamoto K, Yokota M, Sugiyama T, et al. Blood pressure and hypertension are associated with 7 loci in the Japanese population. Circulation 2010; 121: 2302-2309.
17. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
18. Takeuchi F, Serizawa M, Yamamoto K, Fujisawa T, Nakashima E, Ohnaka K, et al. Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. Diabetes 2009; 58: 1690-1699.
19. Devlin B, Roeder K. Genomic control for association studies. Biometrics 1999; 55: 997-1004.
20. Takeuchi F, Kashida M, Okazaki O, Tanaka Y, Fukuda S, Kashima T, et al. Evaluation of pharmacogenetic algorithm for warfarin dose requirements in Japanese patients. Circ J 2010; 74: 977-982.
21. Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006; 38: 209-213.
22. Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet 2009; 41: 1182-1190.
23. Pickrell JK, Coop G, Novembre J, Kudaravalli S, Li JZ, Absher D, et al. Signals of recent positive selection in a worldwide sample of human populations. Genome Res 2009; 19: 826-837.
24. Carr LG, Foroud T, Stewart T, Castelluccio P, Edenberg HJ, Li TK. Influence of ADH1B polymorphism on alcohol use and its subjective effects in a Jewish population. Am J Med Genet 2002; 112: 138-143.
25. Macgregor S, Lind PA, Bucholz KK, Hansell NK, Madden PA, Richter MM, et al. Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: An integrated analysis. Hum Mol Genet 2009; 18: 580-593.
26. Voight BF, Kudaravalli S, Wen X, Pritchard JK. A map of recent positive selection in the human genome. PLoS Biol 2006; 4: e72.
27. Goedde HW, Agarwal DP, Harada S, Meier-Tackmann D, Ruofu D, Bienzle U, et al. Population genetic studies on aldehyde dehydrogenase isozyme deficiency and alcohol sensitivity. Am J Hum Genet 1983; 35: 769-772.
28. Crabb DW. Biological markers for increased risk of alcoholism and for quantitation of alcohol consumption. J Clin Invest 1990; 85: 311-315.
29. Harada S, Misawa S, Agarwal DP, Goedde HW. Liver alcohol dehydrogenase and aldehyde dehydrogenase in the Japanese: Isozyme variation and its possible role in alcohol intoxication. Am J Hum Genet 1980; 32: 8-15.
30. Hulley SB, Gordon S. Alcohol and high-density lipoprotein cholesterol: Causal inference from diverse study designs. Circulation 1981; 64: III57-III63.
31. Gaziano JM, Buring JE, Breslow JL, Goldhaber SZ, Rosner B, VanDenburgh M, et al. Moderate alcohol intake, increased levels of high-density lipoprotein and its subfractions, and decreased risk of myocardial infarction. N Engl J Med 1993; 329: 1829-1834.
32. Nakamura Y, Amamoto K, Tamaki S, Okamura T, Tsujita Y, Ueno Y, et al. Genetic variation in aldehyde dehydrogenase 2 and the effect of alcohol consumption on cholesterol levels. Atherosclerosis 2002; 164: 171-177.
33. Wada M, Daimon M, Emi M, Iijima H, Sato H, Koyano S, et al. Genetic association between aldehyde dehydrogenase 2 (ALDH2) variation and high-density lipoprotein cholesterol (HDL-C) among non-drinkers in two large population samples in Japan. J Atheroscler Thromb 2008; 15: 179-184.
34. Chen CH, Budas GR, Churchill EN, Disatnik MH, Hurley TD, Mochly-Rosen D. Activation of aldehyde dehydrogenase-2 reduces ischemic damage to the heart. Science 2008; 321: 1493-1495.
35. Takeshita T, Yang X, Morimoto K. The ALDH2 genotype, alcohol intake, and liver-function biomarkers among Japanese male workers. Hum Genet 2000; 106: 589-593.
36. Matsumoto A, Kawamoto T, Mutoh F, Isse T, Oyama T, Kitagawa K, et al. Effects of 5-week ethanol feeding on the liver of aldehyde dehydrogenase 2 knockout mice. Pharmacogenet Genomics 2008; 18: 847-852.
37. Oota H, Pakstis AJ, Bonne-Tamir B, Goldman D, Grigorenko E, Kajuna SL, et al. The evolution and population genetics of the ALDH2 locus: Random genetic drift, selection, and low levels of recombination. Ann Hum Genet 2004; 68: 93-109.
38. Brown BT, Woerner A, Wilder JA. Ascertainment bias and the pattern of nucleotide diversity at the human ALDH2 locus in a Japanese population. J Mol Evol 2007; 64: 375-385.
39. Li H, Borinskaya S, Yoshimura K, Kal'ina N, Marusin A, Stepanov VA, et al. Refined geographic distribution of the oriental ALDH2* 504Lys (nee 487Lys) variant. Ann Hum Genet 2009; 73: 335-345.