Genetic studies of alcoholism

Taro Muramatsu, Susumu Higuchi

Research output: Contribution to journalArticlepeer-review


Twin and adoption studies consistently show the involvement of genetic factors in alcoholism. Prevention of this common disease is, at least theoretically, simple: Drink sensibly or abstinence. Accordingly, search for genes related to alcoholism will be of great help in the future preventive activities. 1. Alcohol metabolizing enzymes: Ethanol is eliminated from the body by oxidation to acetaldehyde and then to acetate, reactions catalyzed by alcohol dehydrogenase (ADH2) and aldehyde dehydrogenase (ALDH2), respectively. The latter gene has a common mutation which leads to inactivation of the enzyme activity. Individuals who have this mutant ailele, ALDH22, are prevented from becoming alcoholics because of acetaldehydemia and associated unpleasant symptoms after drinking. In Japan, approximately 10% of alcoholics have this ailele, compared with approximately 50% of controls. 2. Dopamine system: Because its involvement in reward-seeking behavior, dysfunction of dopamine system could be the biological factor of alcoholism. Thus polymorphic genes of this system have been targets of association studies of alcoholism, with conflicting results, due mostly to the heterogeneity of the disease. One strategy to obtain a homogeneous group is to focus on alcoholics with ALDH2*2 ailele, because these patients should have some strong factor(s) to overcome the negative risk factor. In fact, ailele distributions of dopamine D4 receptor and dopamine transporter differed between this group and control.

Original languageEnglish
Number of pages1
JournalJapanese Journal of Human Genetics
Issue number1
Publication statusPublished - 1997 Dec 1
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)


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