ADH4 intronic variations are associated with alcohol dependence: Results from an Italian case-control association study

Pharmacogenetics and Genomics

Volumn 22, Issue 2, 2012, Pages 79-94

  Turchi, Chiara ^a   Piva, Francesco ^a   Solito, Giovanni ^a   Principato, Giovanni ^a   Buscemi, Loredana ^a   Tagliabracci, Adriano ^a  

^a UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

Author keywords

ADH4 gene; alcohol dependence; alcohol use disorders; association studies; intronic single nucleotide polymorphisms

Indexed keywords

ADH4 PROTEIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALCOHOLISM; ARTICLE; BINDING SITE; BIOINFORMATICS; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84855931616     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e32834d05c8     Document Type: Article

References (34)

1. Schuckit MA. An overview of genetic influences in alcoholism. J Subst Abuse Treat 2009; 36:S5-S14.
2. Edenberg HJ, Xuei X, Chen HJ, Tian H, Wetherill LF, Dick DM, et al. Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis. Hum Mol Genet 2006; 15:1539-1549.
3. Foroud T, Edenberg HJ, Goate A, Rice J, Flury L, Koller DL, et al. Alcoholism susceptibility loci: confirmation studies in a replicate sample and further mapping. Alcohol Clin Exp Res 2000; 24:933-945. (Pubitemid 30604310)
4. Reich T. A genomic survey of alcohol dependence and related phenotypes: results from the collaborative study on the genetics of alcoholism (COGA). Alcohol Clin Exp Res 1996; 20:133A-137A. (Pubitemid 26393978)
5. Reich T, Edenberg HJ, Goate A,Williams JT, Rice JP, Van Eerdewegh P, et al. Genome-wide search for genes affecting the risk for alcohol dependence. Am J Med Genet 1998; 81:207-215. (Pubitemid 28211180)
6. Wang JC, Hinrichs AL, Stock H, Budde J, Allen R, Bertelsen S, et al. Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome. Hum Mol Genet 2004; 13:1903-1911. (Pubitemid 39214338)
7. Williams JT, Begleiter H, Porjesz B, Edenberg HJ, Foroud T, Reich T, et al. Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. II. Alcoholism and event-related potentials. Am J Hum Genet 1999; 65:1148-1160. (Pubitemid 30462972)
8. Saccone NL, Kwon JM, Corbett J, Goate A, Rochberg N, Edenberg HJ, et al. A genome screen of maximum number of drinks as an alcoholism phenotype. Am J Med Genet 2000; 96:632-637.
9. Guindalini C, Scivoletto S, Ferreira RG, Breen G, Zilberman M, Peluso MA, et al. Association of genetic variants in alcohol dehydrogenase 4 with alcohol dependence in Brazilian patients. Am J Psychiatry 2005; 162:1005-1007. (Pubitemid 40684468)
10. Luo X, Kranzler HR, Zuo L, Lappalainen J, Yang BZ, Gelernter J. ADH4 gene variation is associated with alcohol dependence and drug dependence in European Americans: results from HWD tests and case-control association studies. Neuropsychopharmacology 2006; 31:1085-1095.
11. Luo X, Zuo L, Kranzler HR,Wang S, Anton RF, Gelernter J. Recessive genetic mode of an ADH4 variant in substance dependence in African-Americans: a model of utility of the HWD test. Behav Brain Funct 2008; 4:42.
12. Luo X, Kranzler HR, Zuo L, Yang BZ, Lappalainen J, Gelernter J. ADH4 gene variation is associated with alcohol and drug dependence: results from family controlled and population-structured association studies. Pharmacogenet Genomics 2005; 15:755-768. (Pubitemid 41531725)
13. Preuss UW, Ridinger M, Rujescu D, Samochowiec J, Fehr C, Wurst FM, et al. Association of ADH4 genetic variants with alcohol dependence risk and related phenotypes: results from a larger multicenter association study. Addict Biol 2011; 16:323-333. doi: 10.1111/j.1369-1600.2010.00236.x.
14. 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.
15. Liu J, Zhou Z, Hodgkinson CA, Yuan Q, Shen PH, Mulligan CJ, et al. Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations. Alcohol Clin Exp Res 2011; 35:1-13.
16. Waggoner D. Mechanisms of disease: epigenesis. Semin Pediatr Neurol 2007; 14:7-14.
17. Irimia M, Rukov JL, Roy SW, Vinther J, Garcia-Fernandez J. Quantitative regulation of alternative splicing in evolution and development. Bioessays 2009; 31:40-50.
18. Hartmann L, Theiss S, Niederacher D, Schaal H. Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases? Front Biosci 2008; 13:3252-3272. (Pubitemid 351594681)
19. Onori N, Turchi C, Solito G, Gesuita R, Buscemi L, Tagliabracci A. GABRA2 and alcohol use disorders: no evidence of an association in an Italian casecontrol study. Alcohol Clin Exp Res 2010; 34:659-668.
20. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997; 4:311-323. (Pubitemid 27355870)
21. Piva F, Giulietti M, Nocchi L, Principato G. SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans. Bioinformatics 2009; 25:1211-1213.
22. Liu K, Muse SV. PowerMarker: an integrated analysis environment for genetic marker analysis. Bioinformatics 2005; 21:2128-2129. (Pubitemid 40668066)
23. Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet 2004; 74:765-769. (Pubitemid 38420107)
24. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-265. (Pubitemid 40202029)
25. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68:978-989. (Pubitemid 32289743)
26. Stephens M, Donnelly P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003; 73:1162-1169. (Pubitemid 37414228)
27. Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, Pages-Berhouet S, et al. Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum Mutat 2008; 29: 975-982. (Pubitemid 351951292)
28. Pagani F, Buratti E, Stuani C, Bendix R, Dork T, Baralle FE. A new type of mutation causes a splicing defect in ATM. Nat Genet 2002; 30: 426-429.
29. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Science 2002; 296:2225-2229. (Pubitemid 34680308)
30. Birley AJ, James MR, Dickson PA, Montgomery GW, Heath AC, Martin NG, et al. ADH single nucleotide polymorphism associations with alcohol metabolism in vivo. Hum Mol Genet 2009; 18:1533-1542.
31. Barron VA, Zhu H, Hinman MN, Ladd AN, Lou H. The neurofibromatosis type I pre-mRNA is a novel target of CELF protein-mediated splicing regulation. Nucleic Acids Res 2010; 38:253-264.
32. Nielsen DM, Ehm MG, Weir BS. Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am J Hum Genet 1998; 63:1531-1540. (Pubitemid 30418550)
33. Leal SM. Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium. Genet Epidemiol 2005; 29:204-214. (Pubitemid 41599833)
34. Lynskey MT, Nelson EC, Neuman RJ, Bucholz KK, Madden PA, Knopik VS, et al. Limitations of DSM-IV operationalizations of alcohol abuse and dependence in a sample of Australian twins. Twin Res Hum Genet 2005; 8:574-584. (Pubitemid 41746442)