RGD Reference Report - Genetic determinants of alcohol addiction and metabolism: a survey in Italy. - Rat Genome Database

RGD Reference Report - Genetic determinants of alcohol addiction and metabolism: a survey in Italy. - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

General

Genetic determinants of alcohol addiction and metabolism: a survey in Italy.
Authors:	Pastorelli, R Bardazzi, G Saieva, C Cerri, A Gestri, D Allamani, A Airoldi, L Palli, D
Citation:	Pastorelli R, etal., Alcohol Clin Exp Res. 2001 Feb;25(2):221-7.
RGD ID:	36947396
Pubmed:	PMID:11236836 (View Abstract at PubMed)
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 reaction-restriction fragment length polymorphism methods. RESULTS: No difference was found in the frequency of the CYP2E1 Rsal c2 allele (2.5% among alcoholics and 4.7% among controls) and the DraI 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.

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
SLC6A4	Human	liver cirrhosis	susceptibility	IAGP		associated with alcohol use disorder and DNA:deletion:promoter:-1212_-1255 (human)	RGD
Slc6a4	Rat	liver cirrhosis	susceptibility	ISO	SLC6A4 (Homo sapiens)	associated with alcohol use disorder and DNA:deletion:promoter:-1212_-1255 (human)	RGD
Slc6a4	Mouse	liver cirrhosis	susceptibility	ISO	SLC6A4 (Homo sapiens)	associated with alcohol use disorder and DNA:deletion:promoter:-1212_-1255 (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
SLC6A4	Human	Cirrhosis	susceptibility	IAGP		associated with alcohol use disorder and DNA:deletion:promoter:-1212_-1255	RGD

Genes (Rattus norvegicus)


Slc6a4 (solute carrier family 6 member 4)

Genes (Mus musculus)


Slc6a4 (solute carrier family 6 (neurotransmitter transporter, serotonin), member 4)

Genes (Homo sapiens)


SLC6A4 (solute carrier family 6 member 4)