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 explore the relationship between polymorphism of Krtippel-like factor 6 (KLF6) gene locus rs7634 and the susceptibility to hepatocellular carcinoma(HCC) in family of Zhuang nationality. Methods Ten normal control families( n = 40) and 20 HCC families( n = 79 ) including 20 patients with HCC and their 59 lineal consanguinity without HCC were enrolled. All subjects were Zhuang nationality from Fusui County of Guangxi. The distribution frequencies of genotypes and alleles of KLF6 gene locus rs7634 were determined using mass spectrometry method. The relationship of different genotypes and alleles with incidence of HCC was analyzed using unconditional logistic regression model. Results Among the patients with HCC, lineal consanguinity of HCC families and persons from normal families,the frequencies of genotype rIT of KLF6 gene locus rs7634 were 40.00% ,54.24% and 87.50% respectively,the frequencies of genotype TA were 60.00% ,42.37% and 12.50% respectively, the frequencies of genotype AA were 0, 3.39% and 0 respectively, the frequencies of allele T were 70.00% ,75.42% and 93.75% respectively, and the frequencies of allele A were 30.00% ,24.58% and 6.25% respectively. In the patients with HCC and persons from normal family,the risk for HCC of the individuals with genotype TA was 10.5 times the risk of the individuals with genotype TT(P 〈0.05) ,and the risk for HCC of the individuals with allele A was 6. 429 times the risk of the individuals with allele T( P 〈 0.05 ). In the patients with HCC and lineal consanguinity of HCC families, the risk for HCC of the individuals with genotype TA was 1. 667 times the risk of the individuals with genotype TT, and the risk for HCC of the individuals with allele A was 1. 257 times the risk of the individuals with allele T,but no statistical differences were observed(P 〉0.05). Conclusion The polymorphism of KLF6 gene locus rs7634 closely correlates with susceptibility to HCC in family of Zhuang nationality. Carrying genotye TA or allele T