广西扶绥县壮族人群ITGβ1基因多态性与肝癌家系遗传易感性的关系

ITGβ1 polymorphism and genetic susceptibility to hepatocellular carcinoma in families from the Zhuang community in Fusui County,Guangxi

探讨广西扶绥县壮族人群中肝癌高发家系ITGβ1基因rs2298141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，选取广西扶绥县壮族人群正常对照家系组40名；肝癌高发家系组79例，其中肝癌患者20例，直系亲属59例。采用质谱方法检测ITGβ1基因rs2298141位点基因型分布频率，非条件logistic回归分析不同基因型与HCC发病风险的关系。结果 ITGβ1基因rs2298141位点存在AA、AG、GG 3种基因型。ITGβ1基因rs2298141位点基因型分布遵循Hardy-Weinberg 遗传平衡定律。ITGβ1基因rs2298141位点A等位基因在正常对照组、肝癌高发家系直系亲属组、肝癌高发家系肝癌患者组中的分布频率分别为63.75%、61.02%、70%，G等位基因分布频率分别36.25%、38.98%和30%，与A 等位基因型个体比较，正常对照家系人群中携带G 等位基因型的个体发生HCC 的风险增加0.75倍（95% CI：0.33～1.7，P=0.50），肝癌高发家系直系亲属组人群发生HCC 的风险增加0.67倍（95% CI：0.31～1.45，P=0.31）。正常对照家系组、肝癌高发家系直系亲属组和肝癌高发家系肝癌患者组人群AA基因型分布频率分别为40%、42.73%和50%，AG基因型分别为47.5%、37.29%和40%，GG基因型分别为12.5%、20.34%和10%。与AA基因型个体相比，正常家系组和肝癌高发家系直系亲属组中AG基因型个体发生HCC的风险分别增加0.67倍（95% CI：0.22～2.1，P=0.50）和0.9倍（95% CI：0.31～2.71，P=0.86）；GG基因型个体发生HCC的风险分别增加1.05倍（95% CI：0.17～6.6，P=0.96）和2.2倍（95% CI：0.40～11.96，P=0.37），差异均无统计学意义（P〉0.05）。结论 未发现ITGβ1基因rs2298141位点多态性与广西扶绥县肝癌家族聚集的遗传易感性存在显著相关。

Objective To investigate the correlation between polymorphism at rs2298141 in the integrin β1（ITGβ1）gene and susceptibility of families in Guangxi to hepatocellular carcinoma（HCC）. Methods In this study,20 HCC family groups comprising 79 members served as cases,and 10 normal family groups comprising 40 members served as controls. Time-of-flight mass spectrometry was used to determine genotype frequencies at rs2298141,and possible correlations between genotype and HCC risk were explored using non-conditional logistic regression. Results AA,AG and GG genotypes were detected at rs2298141,and their frequencies followed Hardy-Weinberg equilibrium. Frequencies of alleles A and G at rs2298141 were similar among controls,core individuals in HCC families and HCC patients （allele A：63.75%,61.02%,70%;allele G：36.25%,38.98%,30%;P〉0.05）. Relative to risk of HCC in individuals with allele A,risk of HCC in controls with allele G was 0.75（95%CI 0.33-1.7,P=0.50）. Relative to risk of HCC in families with allele A,risk of HCC in HCC families with allele G was 0.67（95%CI 0.31-1.45,P=0.31）. AA,AG,and GG genotypes occurred at respective frequencies of 40%,42.73%,and 50% among controls;47.5%,37.29%,and 40% among core individuals in HCC families;and 12.5%,20.34%,and 10%among HCC patients（P〉0.05）. The corresponding frequencies of genotypes AA,AG and GG in the three groups was 40.00%,47.50% and 12.50%;50.00%,42.73%,37.29% and 20.34%;and 50%,40% and 10%. Allele distributions did not differ significantly between cases and controls. Relative to risk of HCC in individuals with the AA genotype, risk of HCC in control families with genotypes AG or GG was,respectively,0.67 （95%CI 0.22-2.1,P=0.50） and 1.05（95%CI 0.17-6.6,P=0.96）, while the risk of HCC in HCC families with genotypes AG or GG was, respectively, 0.9（95%CI 0.31-2.71,P=0.86） and 2.2（95%CI 0.40-11.96,P=0.37）. Conclusion The ITGβ1 rs2298141 polymorphism does not appear to correlate with susceptibility to HCC based on family clustering in Fusui County,Guangxi.