Genetic determinants of alcohol addiction and metabolism: A survey in Italy

Roberta Pastorelli, Gabriele Bardazzi, Calogero Saieva, Annalisa Cerri, Donella Gestri, Allaman Allamani, Luisa Airoldi, Domenico Palli

Research output: Contribution to journalArticlepeer-review


Background: Although multiple genes are involved in alcoholism and can contribute differently to the risk of dependence and liver damage, no studies have investigated susceptibility to addiction in combination with susceptibility to liver damage due to differences in ethanol metabolism. Methods: We evaluated the role of three polymorphic genes related to alcohol metabolism (CYP2E1) and, possibly, dependence (DRD2 and SLC6A4 promoter) in a series of 60 alcoholics admitted to a specialized referral center in Florence, Italy. Eighteen had a diagnosis of liver cirrhosis. A control series of 64 blood donors were identified at the same hospital. Genotyping was done by polymerase chain reactionrestriction fragment length polymorphism methods. Results: No difference was found in the frequency of the CYP2E1 Rsa I c2 allele (2.5% among alcoholics and 4.7% among controls) and the Dra I C allele (6.7% and 10.1%). Similarly, no difference was found in the frequency of the DRD2 A1 allele (15.8% and 13.3%) and the B1 allele (10.8% and 8.6%). The proportion of controls with a combined B1 genotype (B1/B1 or B1/B2) was significantly associated with smoking (p = 0.03). The distribution of the S and L allele of the SLC6A4 gene was similar in the two groups, with 15% and 14%, respectively, homozygous S/S carriers. A significant association, however, emerged in the group of alcoholics, with a five times higher risk for S/S carriers of developing cirrhosis (p <0.05). This association with liver persisted even after exclusion of the subgrouped of 10 hepatitis C virus positive alcoholics. Conclusions: Overall, our results provided no evidence of an increased susceptibility to develop alcoholism that was associated with the three genotypes investigated, either alone or in combination. An increased risk of developing liver cirrhosis for S/S homozygous carriers among alcohol-dependent patients was observed for the first time.

Original languageEnglish
Pages (from-to)221-227
Number of pages7
JournalAlcoholism: Clinical and Experimental Research
Issue number2
Publication statusPublished - 2001


  • CYP2E1
  • DRD2 Gene
  • Italian Alcoholics
  • Polymorphism
  • Serotonin Transporter Gene

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Toxicology


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