Review Article

Human Genetics

, Volume 126, Issue 1, pp 91-99

First online:

Genetics of alcohol dependence

  • Joel GelernterAffiliated withDepartment of Psychiatry, VAMC 116A2, Yale University School of MedicineDepartment of Genetics, Yale University School of MedicineDepartment of Neurobiology, Yale University School of MedicineVA Connecticut Healthcare System Email author 
  • , Henry R. KranzlerAffiliated withDepartment of Psychiatry, University of Connecticut School of Medicine

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Alcohol dependence (AD), a genetically influenced phenotype, is extremely costly to individuals and to society in the United States and throughout the world, contributing to morbidity and mortality and a host of economic, interpersonal, and societal problems. Although until recently the only genes established to affect risk for AD were those encoding several alcohol metabolizing enzymes, there are now several other genes that can be regarded as confirmed risk loci, discovered through linkage and candidate gene association studies. While the mechanism of action of the effects of alcohol-metabolizing enzymes on AD risk is thought to be well understood, we are still in the early stages of understanding the physiology of other risk loci. Further, it is clear that only a small number of the many genes that influence risk for AD have been identified. Newer methodologies (e.g., genomewide association, study of copy number variation, and deep sequencing of candidate loci to identify rare risk variants) that have improved our understanding of other complex traits hold the promise of identifying a greater set of AD susceptibility loci.