Between- and within-family association test of the dopamine receptor D2 TaqIA polymorphism and alcohol abuse and dependence in a general population sample of adults

J Stud Alcohol Drugs. 2007 May;68(3):362-70. doi: 10.15288/jsad.2007.68.362.


Objective: Dopaminergic dysfunction has been hypothesized to play an important role in the etiology of alcohol-use disorders. A restriction fragment length polymorphism (RFLP) in the 3' untranslated region (3'UTR) of the DRD2 gene affects gene expression and has been implicated as a risk factor for alcohol dependence. This polymorphism (TaqIA) has been reported as positively associated with alcohol-use disorders in case-control samples, but these results have not been replicated in family-based association studies. The mixed results of association between the DRD2 TaqIA polymorphism and alcohol-use disorders may be the result of differences in sample size, phenotype definition, heterogeneity of the samples, and genetic admixture.

Method: We conducted tests of association in a sample of 838 adults participating in the National Youth Survey Family Study (NYSFS). We examined whether the DRD2 TaqIA polymorphism was associated with a symptom-count measure of alcohol abuse and dependence derived from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, and the Craving Withdrawal Model.

Results: Tests of association were nonsignificant across each classification system examined. Power calculations suggested that these results were despite the ability to detect an effect size of 1%.

Conclusions: This study supports other family-based association tests that have reported no association between the DRD2 TaqIA polymorphism and alcohol abuse and dependence.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • 3' Untranslated Regions / genetics*
  • Adolescent
  • Adult
  • Alcoholism / epidemiology
  • Alcoholism / genetics*
  • Alleles*
  • Child
  • Cross-Sectional Studies
  • Deoxyribonucleases, Type II Site-Specific / genetics*
  • Female
  • Gene Expression / physiology
  • Genetics, Population*
  • Genotype
  • Humans
  • Longitudinal Studies
  • Male
  • Models, Genetic
  • Polymorphism, Restriction Fragment Length*
  • Prospective Studies
  • Receptors, Dopamine D2 / genetics*
  • United States


  • 3' Untranslated Regions
  • Receptors, Dopamine D2
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases