Laboratory Medicine, University of Udine, 33100 Udine, Italy.
World J Gastroenterol. 2010 Jun 28;16(24):3016-24. doi: 10.3748/wjg.v16.i24.3016.
To assess the relationship between vitamin D receptor (VDR) gene polymorphisms and the presence of hepatocellular carcinoma (HCC).
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).
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).
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.
评估维生素 D 受体（VDR）基因多态性与肝细胞癌（HCC）之间的关系。
研究了 240 例接受肝移植的患者。肝病的病因是丙型肝炎（100 例）、乙型肝炎（37 例）和酒精性肝病（103 例）。236 名健康受试者作为对照组。在 80 例患者的移植肝中检测到 HCC。通过聚合酶链反应和限制性片段长度多态性分析了 VDR 的以下单核苷酸基因多态性：FokI C>T（F/f）、BsmI A>G（B/b）、ApaI T>G（A/a）和 TaqI T>C（T/t）（BAT）。
无 HCC 和有 HCC 的患者的基因型频率分别为 FokI F/F = 69、F/f = 73、f/f = 18 和 F/F = 36、F/f = 36、f/f = 8；BsmI b/b = 45、B/b = 87、B/B = 28 和 b/b = 33、B/b = 33、B/B = 12；ApaI A/A = 53、A/a = 85、a/a = 22 和 A/A = 27、A/a = 38、a/a = 15；TaqI T/T = 44、T/t = 88、t/t = 28 和 T/T = 32、T/t = 38、t/t = 10。BsmI 的 b/b 基因型和 TaqI 的 T/T 基因型的携带与 HCC 显著相关（45/160 与 33/80，P < 0.05 和 44/160 与 32/80，P < 0.05，分别）。BAT 的 A-T-C 保护等位基因缺失与 HCC 的发生显著相关（46/80 与 68/160，P < 0.05）。仅在酒精性肝病患者中观察到携带 BAT A-T-C 和 G-T-T 单倍型与 HCC 之间存在强烈关联（7/46 与 12/36 与 11/21，P < 0.002，分别）。
VDR 遗传多态性与肝硬化患者 HCC 的发生显著相关。这种关系在酒精性病因的患者中更为特异。
