RGD Reference Report - Vitamin D receptor gene polymorphisms and hepatocellular carcinoma in alcoholic cirrhosis. - Rat Genome Database

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Vitamin D receptor gene polymorphisms and hepatocellular carcinoma in alcoholic cirrhosis.

Authors: Falleti, Edmondo  Bitetto, Davide  Fabris, Carlo  Cussigh, Annarosa  Fontanini, Elisabetta  Fornasiere, Ezio  Fumolo, Elisa  Bignulin, Sara  Cmet, Sara  Minisini, Rosalba  Pirisi, Mario  Toniutto, Pierluigi 
Citation: Falleti E, etal., World J Gastroenterol. 2010 Jun 28;16(24):3016-24. doi: 10.3748/wjg.v16.i24.3016.
RGD ID: 14402026
Pubmed: PMID:20572305   (View Abstract at PubMed)
PMCID: PMC2890942   (View Article at PubMed Central)
DOI: DOI:10.3748/wjg.v16.i24.3016   (Journal Full-text)


AIM: 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).
CONCLUSION: 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hepatocellular carcinoma susceptibilityIAGP 14402026associated with alcoholic liver cirrhosis and DNA:haplotype::RGD 
hepatocellular carcinoma susceptibilityISOVDR (Homo sapiens)14402026; 14402026associated with alcoholic liver cirrhosis and DNA:haplotype::RGD 

Objects Annotated

Genes (Rattus norvegicus)
Vdr  (vitamin D receptor)

Genes (Mus musculus)
Vdr  (vitamin D (1,25-dihydroxyvitamin D3) receptor)

Genes (Homo sapiens)
VDR  (vitamin D receptor)


Additional Information