title: Vitamin D receptor gene polymorphisms and hepatocellular carcinoma in alcoholic cirrhosis.
abstract: OBJECTIVE
  To assess the relationship between vitamin D receptor (VDR) gene polymorphisms and the presence of hepatocellular carcinoma (HCC).
  
  
  METHODS
  Two-hundred forty patients who underwent liver transplantation were studied. The etiologies of liver disease were hepatitis C (100 patients), hepatitis B (37) and alcoholic liver disease (103). A group of 236 healthy subjects served as controls. HCC in the explanted liver was detected in 80 patients. The following single nucleotide gene polymorphisms of the VDR were investigated by polymerase chain reaction and restriction fragment length polymorphism: FokI C>T (F/f), BsmI A>G (B/b), ApaI T>G (A/a) and TaqI T>C (T/t) (BAT).
  
  
  RESULTS
  The frequencies of genotypes in patients without and with HCC were for FokI F/F = 69, F/f = 73, f/f = 18 and F/F = 36, F/f = 36, f/f = 8; BsmI b/b = 45, B/b = 87, B/B = 28 and b/b = 33, B/b = 35, B/B = 12; for ApaI A/A = 53, A/a = 85, a/a = 22 and A/A = 27, A/a = 38, a/a = 15; for TaqI T/T = 44, T/t = 88, t/t = 28 and T/T = 32, T/t = 38, t/t = 10. Carriage of the b/b genotype of BsmI and the T/T genotype of TaqI was significantly associated with HCC (45/160 vs 33/80, P < 0.05 and 44/160 vs 32/80, P < 0.05, respectively). The absence of the A-T-C protective allele of BAT was significantly associated with the presence of HCC (46/80 vs 68/160, P < 0.05). A strong association was observed between carriage of the BAT A-T-C and G-T-T haplotypes and HCC only in alcoholic liver disease (7/46 vs 12/36 vs 11/21, P < 0.002, respectively).
  
  
  CONCLUSIONS
  VDR genetic polymorphisms are significantly associated with the occurrence of HCC in patients with liver cirrhosis. This relationship is more specific for patients with an alcoholic etiology.
authors.affiliation: Laboratory Medicine, University of Udine, 33100 Udine, Italy.
authors.forename: Edmondo
authors.initials: E
authors.lastname: Falleti
authors.forename: Davide
authors.initials: D
authors.lastname: Bitetto
authors.forename: Carlo
authors.initials: C
authors.lastname: Fabris
authors.forename: Annarosa
authors.initials: A
authors.lastname: Cussigh
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Fontanini
authors.forename: Ezio
authors.initials: E
authors.lastname: Fornasiere
authors.forename: Elisa
authors.initials: E
authors.lastname: Fumolo
authors.forename: Sara
authors.initials: S
authors.lastname: Bignulin
authors.forename: Sara
authors.initials: S
authors.lastname: Cmet
authors.forename: Rosalba
authors.initials: R
authors.lastname: Minisini
authors.forename: Mario
authors.initials: M
authors.lastname: Pirisi
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Toniutto
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D057229:Alcoholics; D000483:Alleles; D006528:Carcinoma, Hepatocellular / Q000209:etiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008104:Liver Cirrhosis, Alcoholic / Q000150:complications / Q000235:genetics*; D008113:Liver Neoplasms / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol