TSPAN8基因多态性与广西扶绥县肝癌家系遗传易感性关系研究

Relationship between the gene polymorphism of TSPAN8 and susceptibility of hepatocellular carcinoma pedigrees in Fusui County of Guangxi

目的探讨广西扶绥县肝癌高发家系TSPAN8基因单核苷酸多态性(SNP)与肝癌遗传易感性的关系。方法收集广西扶绥县肝癌高发区20个肝癌高发家系(肝癌患者20例及直系亲属59例)及10个正常对照家系(共40例)作为研究对象,运用飞行时间质谱分析技术(MALDI-TOF)检测TSPAN8基因rs2270587位点基因型,分析该基因位点多态性与肝癌家系遗传易感性的关系。结果 (1)TSPAN8基因rs2270587位点存在C、T两种等位基因型及CC、CT和TT三种基因型。(2)正常家系组及肝癌家系非患者组CT基因型个体罹患HCC的风险分别是CC基因型个体的0.34倍(95%CI=0.07~1.59,P>0.05)和0.42倍(95%CI=0.11~1.66,P>0.05);正常家系组中T等位基因个体罹患HCC的风险是C等位基因个体的0.29倍(95%CI=0.09~0.92,P=0.028),肝癌家系非患者组中T等位基因个体罹患HCC的风险是C等位基因个体的0.46倍(95%CI=0.15~1.42,P>0.05)。结论 TSPAN8基因rs2270587位点多态性与广西肝癌遗传易感性有相关性,T等位基因型可能是广西扶绥县HCC发生的保护因素。

Objective To investigate the relationship between single nucleotide polymorphism（SNP） of TSPAN8（rs2270587） and susceptibility of hepatocellular carcinoma pedigrees in Fusui County of Guangxi. Methods Twenty high incidence hepatocellular carcinoma（HCC） families（20 HCC cases and 59 immediate family members） and 10 health control families（40 cases） were selected from Fusui Country of Guangxi Zhuang Autonomous Region. Matrixassisted laser desorption/ionization-time of flight（MALDI-TOF） was used to detect genotyping of rs2270587 loci in TSPAN8 gene,the correlation between TSPAN8（rs2270587） polymorphism and susceptibility of HCC families was analyzed. Results（1） The TSPAN8 rs2270587 locus owned two alleles（C and T） and three genotypes（CC、CT and TT）.（2） In the control group of normal families and non-HCC group of HCC families,HCC onset risks of individuals with rs2270587 locus CT genotype of ATF5 gene were 0. 34 times（95% CI = 0. 07-1. 59,P 〉0. 05） and 0. 42 times（95% CI = 0. 11-1. 66,P〉 0. 05） of individuals with CC genotype respectively; in the control group of normal families,HCC onset risks of individuals with rs2270587 locus T allele genotype was 0. 29 times of individuals with C allele genotype（95% CI = 0. 09-0. 92,P = 0. 028）,in non-HCC group of HCC families,HCC onset risks of individuals with rs2270587 locus T allele genotype was 0. 46 times of individuals with C allele genotype（95% CI = 0. 15-1. 42,P 〉0. 05）.Conclusions There could be correlation between polymorphism of TSPAN8（rs2270587） gene and genetic susceptibility of HCC in Fusui County of Guangxi,the T allele might be a protective factor of HCC.