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中国癌症防治杂志

中国癌症防治杂志 ›› 2016, Vol. 8 ›› Issue (2): 78-82.doi: 10.3969/j.issn.1674-5671.2016.02.02

• 基础研究 • 上一篇    下一篇

广西扶绥县壮族肝癌家系人群Itgb1基因多态性与肝癌遗传易感性的研究

  

  1. 广西肿瘤防治研究所 广西医科大学附属肿瘤医院实验研究部；广西医科大学研究生学院
  • 出版日期:2016-04-25 发布日期:2016-05-13
  • 通讯作者: 谢裕安 gxwskj@163.com
  • 基金资助:

    国家自然科学基金资助项目（81260320

Single nucleotide polymorphism in the integrin beta1 gene and genetic susceptibility to hepatocellular carcinoma in clusters of families with liver cancer in Fusui County，Guangxi

  • Online:2016-04-25 Published:2016-05-13

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摘要：

目的 研究广西扶绥县壮族肝细胞癌（hepatocellular carcinoma，HCC，以下简称肝癌）高发家系人群Itgb1基因rs2298141位点单核苷酸多态性（single nucleotide polymorphism，SNP）和肝癌遗传易感性的关系。方法 采用病例-对照研究方法，选择扶绥县20个肝癌高发家系共79例（肝癌高发家系组）和10个正常对照家系共40名（正常对照家系组）为研究对象，应用时间飞行质谱技术（MALDI-TOF MS）检测两组Itgb1基因rs2298141位点的基因型及等位基因频率，并应用非条件logistic回归分析该位点基因多态性与肝癌遗传易感性的关系。结果 正常对照家系组人群携带AA、AG、GG基因型频率分别为40.00%、47.50%、12.50%。肝癌高发家系组人群携带AA、AG、GG基因型频率分别为50.00%、40.00%、10.00%；两组Itgb1基因rs2298141位点各基因型频率与期望值吻合度较好（P＞0.05），符合Hardy-Weinberg遗传平衡定律。正常对照家系组人群中AG、GG基因型个体罹患肝癌的风险分别是AA基因型个体的0.67倍（95%CI：0.22～2.1，P=0.50）和1.05倍（95%CI：0.17～6.6，P=0.96）；肝癌高发家系组人群中未患肝癌者AG、GG基因型个体罹患肝癌的风险分别是AA基因型个体的0.91倍（95%CI：0.31～2.71，P=0.86）和2.2倍（95%CI：0.40～11.96，P=0.37），但差异无统计学意义（P＞0.05）。结论 广西扶绥县壮族人群中Itgb1基因rs2298141位点的SNP与罹患肝癌无明显相关性。

关键词:  肝肿瘤, Itgb1基因, 家系, 单核苷酸多态性, 遗传易感性

Abstract:

Objective To study the relationship between single nucleotide polymorphism （SNP） rs2298141 in the integrin beta1 gene （Itgb1） and genetic susceptibility to hepatocellular carcinoma（HCC） in clusters of families with liver cancer in Fusui County，Guangxi. Methods In this case-control study，20 liver cancer family groups comprising 79 members served as the case，and 10 normal family groups comprising 40 members served as the control. Time-of-flight mass spectrometry was used to detect rs2298141 genotype frequencies，and logistic regression was carried out to explore correlations between these frequencies and HCC risk. Results The frequencies of the genotypes AA，AG and GG in controls was 40.00%，47.50% and 12.50%，compared to 50.00%，40.00% and 10.00% in the liver family group. Allele distributions did not differ significantly between two groups（P>0.05），and genotype distributions conformed to Hardy-Weinberg equilibrium. Among controls，risk of HCC in individuals with the AG genotype was 0.67（95%CI：0.22-2.1，P=0.50） relative to the risk in individuals with AA genotype；risk of HCC in those with the GG genotype was 1.05 （95%CI：0.17-6.6，P=0.96） relative to the risk in those with the AA genotype. The corresponding risk in families with high HCC incidence was 0.91（95%CI：0.31-2.71，P=0.86） and 2.2（95%CI：0.40-11.96，P=0.37）. Conclusion The Itgb1 rs2298141 polymorphism may not correlate with liver cancer in familial clusters of genetic susceptibility in Fusui County，Guangxi.

Key words: Liver neoplasm, Integrin-beta1 gene, Family, Single gene nucleotide polymorphism, Genetic susceptibility