TGF-β1rs1800469基因多态性与HBV感染及肝癌家族聚集的相关性

Relationship between a TGF-β1 gene polymorphism and HBV infection and familial clustering of hepatocellular carcinoma

目的:探讨TGF-β1rs1800469基因多态性与HBV感染及肝癌家族聚集性的相关性.方法:以广西肝癌高发区肝癌高发家族成员114名为实验组,采取年龄±5岁、性别、民族及HBsAg配对法选取无癌家族成员114名为对照组,提取外周血DNA,应用聚合酶链反应—限制性片段长度多态性(PCR-RFLP)技术,对TGF-β1rs1800469位点上的基因型CC、TC、TT,等位基因T、C进行分析.结果:TGF-β1rs1800469等位基因T、C的频率和基因型CC、TC、TT在肝癌高发家族成员和无癌家族成员间的分布无统计学差异(P>0.05).TGF-β1rs1800469等位基因T、C的频率和基因型TC、TT在乙肝表面抗原阳性和阴性组间分布无统计学差异(P>0.05),而基因型CC在两组间的分布存在差别(P<0.05).结论:TGF-β1rs1800469等位基因T、C和基因型CC、TC、TT与广西肝癌家族聚集危险性似无明显相关性;TGF-β1r s1800469基因型CC可能会增加HBV感染危险性,而TGF-β1rs1800469等位基因T、C的频率和基因型TC、TT无明显作用.

AIM：To investigate the relationship between a single nucleotide polymorphism（SNP） of the TGF-β1 gene（rs1800469） and HBV infection and familial clustering of hepatocellular carcinoma in Guangxi,China.METHODS：Blood samples collected from 114 family members（FHCC） whose families have had two or even more hepatocellular carcinoma patients and 114 healthy controls（FNC） who come from the families without any cancer.SNP genotyping was performed in these subjects using DNA sequencing and polymerase chain reaction-restriction fragment length polymorphism.RESULTS：There were no statistical differences between the FHCC group and FNC group in the frequencies of the alleles（T,C） and genotypes（CC,TC,TT） at the rs1800469 locus,and in the distribution of the alleles（T,C） and frequencies of genotypes（TC,TT） between subjects who were infected by chronic hepatitis B（HBsAg positive） and those who were not infected（HBsAg negative）（all P 0.05）.However,there was a statistical difference in the frequency of genotype CC between the HBsAg-positive and-negative groups（P 0.05）.CONCLUSION：The alleles（T,C） and genotypes（CC,TC,TT） at the rs1800469 locus in the TGF-β1 gene are not associated with familial clustering of hepatocellular carcinoma in families in Guangxi Province.The genotype CC at the rs1800469 locus might increase the risk for HBV infection.