title: TGF-beta1 genotypes in cirrhosis: relationship with the occurrence of liver cancer.
abstract: This study aimed to verify whether specific single nucleotide polymorphisms (SNPs) of the transforming growth factor-beta1 (TGF-beta1) may predispose to end-stage liver disease and/or hepatocellular carcinoma (HCC). One hundred eighty-eight consecutive patients transplanted for liver cirrhosis (HBV N=21, HCV N=68, alcoholic N=55 and others N=23) and a control group of 140 healthy blood donors were investigated. Four SNPs were studied by restriction fragment length assays: -800G>A, -509C>T, Leu10Pro and Arg25Pro. Patients were found to possess the -509T/ * (TT 53/188, CT 85/188, CC 50/188 vs TT 22/140, CT 61/140, CC 57/140; p<0.002) and Arg25Pro C/ * genotypes (CC 1/188, CG 31/188, GG 156/188 vs CC 0/140, CG 13/140, GG 127/140; p<0.05) more frequently than controls. Patients with cirrhosis complicated by HCC possessed more frequently the Leu10Pro T/ * genotype than patients without HCC (TT 20/54, CT 26/54, CC 8/54 vs TT 31/134, CT 69/134, CC 34/134; p<0.05). The analysis of molecular variance detected significant genotypic differentiations between controls and cirrhotics but not between cirrhotics with or without HCC. In conclusion, TGF-beta1 SNPs probably facilitate the development of liver cirrhosis, while they seem to have a limited role in predicting the occurrence of HCC.
authors.affiliation: Laboratory Medicine, DPMSC, University of Udine, Italy.
authors.forename: Edmondo
authors.initials: E
authors.lastname: Falleti
authors.forename: Carlo
authors.initials: C
authors.lastname: Fabris
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Toniutto
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Fontanini
authors.forename: Annarosa
authors.initials: A
authors.lastname: Cussigh
authors.forename: Davide
authors.initials: D
authors.lastname: Bitetto
authors.forename: Ezio
authors.initials: E
authors.lastname: Fornasiere
authors.forename: Claudio
authors.initials: C
authors.lastname: Avellini
authors.forename: Rosalba
authors.initials: R
authors.lastname: Minisini
authors.forename: Mario
authors.initials: M
authors.lastname: Pirisi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008103:Liver Cirrhosis / Q000235:genetics / Q000276:immunology; D008113:Liver Neoplasms / Q000235:genetics / Q000276:immunology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000235:genetics; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D055815:Young Adult
chemical_list: D020033:Protein Isoforms; D053773:Transforming Growth Factor beta1