Meng Wei, Lu Hongyan, Cai Rulin, Jiang Feng, Jiang Qingwu, Lin Wenyao, Shen Fumin
The Department of Epidemiology, Public Health School of Fudan University, Shanghai 200032, China.
Zhonghua Liu Xing Bing Xue Za Zhi. 2002 Dec;23(6):438-40.
To explore the interaction between inheritance and environment with the aid of research on the genetic modes of hepatocellular carcinoma (HCC).
A genetic epidemiological study of HCC was conducted based on the methods of Penrose, simple segregation and Falconer for 100 proband pedigrees from HBsAg positive cohort. The proband samples came from a cohort of 90,00 people who were followed for 8 years. Analyses on genetic modes were carried out and heritability was calculated through the comparison of the proband pedigrees incidence frequency with incidence frequencies of the cohort and general population.
The incidence frequency of first-degree relatives was 4.0%, higher than what was seen in the general population incidence frequency (0.44%) and the cohort (1.03%). A familial aggregation of HBsAg carriers and a strong positive correlation between HBsAg carrier status and HCC were noticed (OR = 8.44, 95% CI: 3.37-20.06, P < 0.001). A ratio of the incidence frequency among siblings to the incident frequency among general population (s/q) approached 1/q(1/2) by Penrose method, but simple segregation did not show agreement with single-gene inheritance. The heritability from positive cohort was 42% +/- 6% (P < 0.05), compared with the heritability (59% +/- 7%) of general population. When the effect of the HBsAg was under control, the heritability from positive cohort turned to be 29% +/- 8% (P < 0.05), compared with the heritability (47% +/- 7%) of general population.
Our findings suggested that HCC followed a multifactorial mode rather than single inheritance. An interaction effect of inheritance and environment on HCC was also noticed.
借助肝细胞癌（HCC）遗传模式的研究来探索遗传与环境之间的相互作用。
基于彭罗斯法、简单分离法和福尔克纳法，对来自乙肝表面抗原（HBsAg）阳性队列的100个先证者家系进行HCC的遗传流行病学研究。先证者样本来自一个90000人的队列，该队列随访了8年。进行遗传模式分析，并通过比较先证者家系发病率与队列及一般人群的发病率来计算遗传度。
一级亲属的发病率为4.0%，高于一般人群发病率（0.44%）和队列发病率（1.03%）。注意到HBsAg携带者存在家族聚集性，且HBsAg携带者状态与HCC之间存在强正相关（比值比=8.44，95%可信区间：3.37 - 20.06，P<0.001）。根据彭罗斯法，兄弟姐妹间发病率与一般人群发病率之比（s/q）接近1/q(1/2)，但简单分离法未显示与单基因遗传相符。阳性队列的遗传度为42%±6%（P<0.05），而一般人群的遗传度为59%±7%。当控制HBsAg的影响时，阳性队列的遗传度变为29%±8%（P<0.05），而一般人群的遗传度为47%±7%。
我们的研究结果表明，HCC遵循多因素模式而非单基因遗传模式。还注意到遗传与环境对HCC存在交互作用。
