目的：探讨广西扶绥县壮族人群ATF5基因rs283526和rs8647位点多态性与肝细胞癌（hepatocellular carcinoma, HCC）遗传易感性的关系。方法：采用病例-对照研究方法，选择广西扶绥县壮族人群HCC家系79例（观察组）、正常对照家系40例（对照组），运用质谱方法检测ATF5基因rs283526和rs8647位点基因型分布频率；应用非条件Logistic回归分析不同基因型与HCC发病风险的相关性。结果：对照组人群ATF5基因rs283526位点CT、TT基因型个体发生HCC的风险分别是CC基因型个体的0.181倍（95% CI=0.440-0.736，P<0.05）和0.348倍（95% CI=0.151-0.804，P<0.01）、rs283526位点携带T 等位基因型的个体发生HCC的风险是C等位基因型个体的0.405倍（95%CI =0.226-0.726，P<0.01）。ATF5基因rs8647对照组人群GA、AA基因型个体发生HCC的风险分别是GG基因型个体的1.022倍和1.949倍，其携带A等位基因型的个体发生HCC的风险是G等位基因型个体的0.952倍，但差异均无统计学意义（P﹥0.05）。结论：广西扶绥县HCC家系ATF5基因rs283526多态性与肝癌遗传易感性有相关性，其等位基因T是HCC的保护因素。

Objective: To explore relationship between polymorphism of rs283526 and rs8647 loci in ATF5 gene and genetic susceptibility of hepatocellular carcinoma (HCC) in Zhuang population of Fusui County, Guangxi Zhuang Autonomous Region. Methods: With case-control study, 79 cases of HCC family (observation group) and 40 cases of normal family (control group) in Zhuang population were selected from Fusui Country of Guangxi Zhuang Autonomous Region, mass spectrometry assay was used to examine distribution frequency of rs283526 and rs8647 loci in ATF5 gene among them. Correlation between various genotypes and onset risk of HCC were analyzed by unconditional Logistic regression method. Results: In population of the control group, HCC onset risks of individuals with rs283526 locus CT, TT genotype of ATF5 gene were 0.181 times (P<0.05) and 0.348 times (P<0.05) of individuals with CC genotype respectively, HCC onset risk of individuals with rs283526 locus T allele genotype was 0.405 times (P<0.01) of individuals with C allele genotype. In control population with rs8647 locus of ATF5 gene, HCC onset risks of individuals with GA, AA genotype were 1.022 times and 1.949 times, HCC onset risk of individuals with rs8647 A allele genotype was 0.925 times of individuals with G allele genotype, but all the differences were not statistically significant (P>0.05). Conclusion: There could be correlation between polymorphism of rs283526 locus of ATF5 gene and genetic susceptibility of HCC in Fusui Country of Guangxi Zhuang Autonomous Region, T allele genotype of ATF5 gene might be a protective factor of HCC.

国家自然科学基金资助项目（No. 81260320）