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目的探讨Krüppel样因子6(KLF6)基因rs7634位点多态性与壮族人群肝细胞癌(HCC)易感性的关系。方法选取广西扶绥县壮族人群10个正常对照家系(40例)及20个肝癌家系(79例),后者包括HCC患者20例及其未患HCC的直系亲属59例。运用质谱方法检测KLF6基因rs7634位点基因型及等位基因的分布频率;应用非条件logistic回归分析不同基因型及等位基因与HCC发病的关系。结果在肝癌患者、肝癌家系亲属和正常家系人群中,KLF6基因rs7634位点TT基因型的分布频率分别为40.00%、54.24%和87.50%,TA基因型的分布频率分别为60.00%、42.37%和12.50%,AA基因型的分布频率分别为0、3.39%和0,T等位基因的分布频率分别为70.00%、75.42%和93.75%,A等位基因的分布频率分别为30.00%、24.58%和6.25%。在肝癌患者及正常家系人群中,携带TA基因型个体发生肝癌的风险是TT基因型个体的10.5倍(P<0.05),携带A等位基因个体发生肝癌的风险是T基因型个体的6.429倍(P<0.05);在肝癌患者及肝癌家系直系亲属中,携带TA基因型个体发生HCC的风险是TT基因型个体的1.667倍,携带A基因型个体发生肝癌的风险是T基因型个体的1.257倍,但差异均无统计学意义(P>0.05)。结论 KLF6基因rs7634多态性与壮族家系肝癌易感性关系密切,携带TA基因型或A等位基因可能是HCC发生的危险因素。
Objective To investigate the relationship between the rs7634 polymorphism of Krüppel-like factor 6 (KLF6) gene and susceptibility to hepatocellular carcinoma (HCC) in Zhuang. Methods Ten normal control pedigrees (40 cases) and 20 hepatocellular carcinoma pedigrees (79 cases) were selected from Zhuang nationality in Fusui County, Guangxi. The latter included 20 HCC patients and 59 non-HCC relatives. The frequencies of genotype and allele of rs7634 in KLF6 gene were detected by mass spectrometry. The relationship between different genotypes and alleles and the incidence of HCC was analyzed by using unconditional logistic regression. Results The frequency of TT genotype of rs7634 in KLF6 gene was 40.00%, 54.24% and 87.50% in liver cancer patients, relatives of HCC family members and normal familial patients respectively. The frequency of TA genotypes was 60.00%, 42.37% and 12.50%, AA genotype frequencies were 0, 3.39% and 0 respectively. The frequencies of T allele were 70.00%, 75.42% and 93.75%, respectively. The distribution frequencies of A allele were 30.00% and 24.58% And 6.25%. In HCC patients and normal familial subjects, the risk of HCC in individuals with TA genotype was 10.5 times higher than that in individuals with TT genotype (P <0.05), and those with A allele were 6.429 times higher than those with T genotype (P <0.05). Among the HCC patients and the immediate relatives of HCC patients, the risk of developing HCC in individuals with TA genotype was 1.667 times that of individuals with TT genotype, and the incidence of HCC in individuals with A genotype was 1.257 Times, but the differences were not statistically significant (P> 0.05). Conclusion The rs7634 polymorphism of KLF6 gene is closely related to the susceptibility to hepatocellular carcinoma in Zhuang ethnicity. It may be a risk factor for HCC with TA genotype or A allele.