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The taqI DRD2 A1 allele is associated with alcohol-dependence although its effect size is small

Journal article
Authors Ulf Berggren
Claudia Fahlke
Erik Aronsson
Alina (Aikaterini) Karanti
Matts Eriksson
Kaj Blennow
Dag Thelle
Henrik Zetterberg
Jan Balldin
Published in Alcohol
Volume 41
Issue 5
Pages 479-85
ISSN 0735-0414
Publication year 2006
Published at Institute of Medicine, School of Public Health and Community Medicine
Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Department of Psychology
Pages 479-85
Language en
Keywords Adult, Aged, Alcoholism/*genetics, Alleles, Case-Control Studies, Chi-Square Distribution, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Phenotype, Polymerase Chain Reaction, Polymorphism, Genetic, Receptors, Dopamine D2/*genetics, Sweden, Taq Polymerase/genetics
Subject categories Psychology, Public health medicine research areas, Psychiatry


BACKGROUND: Numerous studies of the relationship between the TaqIA DRD2 A1 allele and alcohol-dependence have been performed and many of these have shown an association whereas others have not (Noble, 2003). This has consequently generated some controversy as to whether such an association actually exists (Noble, 2003). In the two recent meta-analyses by Noble (2003) and Young et al. (2004) some very important methodological issues have been discussed, which need to be addressed in forthcoming studies. Thus, the sample size is of great importance. In case-control studies it has been estimated that to detect the role of genes with small effect size of approximately 2, which is in the range of the DRD2 A1 allele-alcoholism relationship, case-control sets of 300-400 subjects are necessary (Noble, 2003). METHODS: In the present study, we have consequently recruited a large number of subjects, 375 alcohol-dependent individuals, who were treated as inpatients for alcohol withdrawal symptoms and out of these 357 could be evaluated. As controls, 578 individuals screened and 254 individuals unscreened for alcohol consumption were used. Thus, the total number of subjects was 1217. RESULTS: In the present study, in which the TaqI A1/A2 DRD2 polymorphism was in Hardy-Weinberg equilibrium in the patient group and the two control groups, we found that the TaqI DRD2 A1/A2 genotype frequency differed significantly between the alcohol-dependent group and both the total and screened control groups. Furthermore, the TaqI DRD2 A1 allele frequency was significantly overrepresented in the alcohol-dependent subjects as compared with both the total and screened control groups. The odds ratio for alcohol-dependency being associated with the A1 allele was 1.34. CONCLUSIONS: Consequently, the findings in this study lend further support to the notion of an association between the DRD2 A1 allele and alcohol-dependence, although the effect size of the DRD2 A1 allele is small.

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