Association study of serotonin transporter gene regulatory region polymorphism and alcoholism

Sachio Matsushita, Aihide Yoshino, Masanobu Murayama, Mitsuru Kimura, Taro Muramatsu, Susumu Higuchi

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70 Citations (Scopus)


Previous studies have indicated associations between a functional biallelic repetitive element in the 5′ regulatory region of the serotonin transporter gene (5-HTTLPR) and alcoholic subjects who have either dissocial personality disorder or severe withdrawal symptoms. To replicate these associations under the hypothesis that genetic polymorphism plays some role in the susceptibility or vulnerability of some subgroup of alcoholics, the associations between alcoholic subjects' genetic polymorphisms, clinical characteristics, and personality traits were examined. This case control study comprised 697 alcoholic and 270 control subjects. A questionnaire focusing on family and social background, history of drinking and alcohol withdrawal, DSM-III-R criteria for the evaluation of psychiatric conditions, and Feighner's criteria for the lifetime diagnosis and assessment of overall severity of alcoholism was administered to 373 alcoholic subjects. Temperament and Character Inventory (TCI) and Sensation Seeking Scale (SSS) were used to evaluate the other 324 alcoholics. The frequency of the homozygous short allele was significantly higher in alcoholic binge drinkers than in nonbinge drinking alcoholics. There were no significant differences in the frequencies of either the 5-HTTLPR genotype or the short vs. long allele in alcoholic and control subjects. The alcoholics' 5-HTTLPR genotype and allele frequencies did not differ significantly by the severity of withdrawal symptoms or by the number of positive Feighner's diagnostic criteria. Although these results indicate an association between 5-HTTLPR and a subgroup of alcoholics characterized by binge drinking, the authors found no differences in SSS and TCI subscale scores for alcoholics with different 5-HTTLPR genotypes. Future studies of the association in other alcoholic population should take into account personality traits.

Original languageEnglish
Pages (from-to)446-450
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number5
Publication statusPublished - 2001 Jul 8


  • Alcoholism
  • Binge drinking
  • Clinical characteristics
  • Personality traits
  • Polymorphism
  • Regulatory region
  • Serotonin transporter gene

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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