HFE基因突变与慢性乙型肝炎后肝癌的相关性

目的探讨HFE-C282Y／H63D基因突变与慢性乙型肝炎后肝癌的相关性。方法 采用病例对照分子流行病学研究方法，以聚合酶链反应限制性片段长度多肽性方法，对甘肃省兰州市56例乙型肝炎后肝癌患者和60例健康人进行HFE-C282Y／H63D基因突变的检测，两组间HFE-C282Y／H63D基因型比较采用x^2检验。结果 在检测的56例慢性乙型肝炎后肝癌患者中，C1／C1基因型占83．9％，C1／C2基因型占5．4％，C2／C2基因型占10．7％，C2等位基因出现的频率为16．1％，高于正常对照组的1．7％，差异有统计学意义，其中C2／C2基因型的频率（10．7％）亦高于正常对照组（0），差异有统计学意义，OR值为2．2（95％可信区间为1．8～2．7）。H63D纯合子与杂合子的基因频率分别为3．6％和7．1％，两者之间差异无统计学意义。结论 HFE-C282Y基因突变，尤其是纯合子变异型（C2／C2基因型）可能与慢性乙型肝炎后肝癌的发生有关。表明发生HFE-C282Y基因突变，尤其是C282Y纯合子变异型（C2／C2）的个体罹患肝癌的可能性大。

Association of mutations of HFE gene and hepatocellular carcinoma following chronic hepatitis B

Objectives To investigate the frequency of HFE gene variants in patients with hepatocellular carcinoma following chronic hepatitis B and to analyze their relationships. Methods 56 patients with hepatocellular carcinoma following chronic hepatitis B (HCC group) and 60 healthy blood donors (control group) were studied for the amino acid dimorphism at codon 63 (His63Asp=H63D) and codon 282 (Cys282Tyr = C282Y) of the HFE gene. The codon 63 and 282 dimorphisms were defined by PCR amplification of genomic DNA samples and restriction enzyme digestion using RsaI for C282Y and BclI for H63D. The association between hepatocellular carcinoma following chronic hepatitis B and HFE mutations were analyzed by Chi-square test. Results The genotype frequency of C2/C2 in the HCC group was markedly higher than that in the normal control group (10.7% vs 0) and there was a significant correlation between them. At the same time, the allele frequency of C2 in the HCC group was markedly higher than that in the normal control group (16.1% vs 1.7%) and there was a significant correlation between them also. Conclusion The mutation of C282Y may be related with susceptibility to HCC after chronic hepatitis B. This outcome suggests that host HFE mutation may be an important factor related to the pathogenesis of HCC.