Zhang Jian, Xue Fangxi, Chen Shuhua, Zhang Dongqin, Lu Cuihong, Tang Gongen
Department of Infectious Diseases Department of Gastroenterology, Linyi Central Hospital, Linyi, China.
Medicine (Baltimore). 2017 Oct;96(42):e7359. doi: 10.1097/MD.0000000000007359.
This study aimed to explore the genetic association of polymorphisms in caveolin-1 gene (CAV1) with hepatitis B virus-related hepatocellular carcinoma (HBV-related HCC) susceptibility in a Chinese Han population.The genotyping of polymorphism was conducted using polymerase chain reaction-restriction fragment length polymorphism method. Whether the genotype distribution of polymorphisms in the healthy controls was consistent with Hardy-Weinberg equilibrium (HWE) was detected. The genotype and allele frequency difference between the 2 groups was compared by chi-square test. Odds ratio (OR) and 95% confidence interval (95% CI) were calculated to show the relative risk of HCC which resulted from genetic variants in CAV1. Moreover, the linkage disequilibrium of CAV1 polymorphisms was analyzed by Haploview.The AG genotype and A allele of rs1049334 showed significantly higher frequency in HCC patients than that of chronic HBV patients and the healthy controls (P < .05); so their carriage obviously increased the susceptibility to HBV-related HCC, irrespective of the fact whether individuals were infected with hepatitis B virus or not (AG vs GG: OR 1.958, 95% CI 1.050-3.650, OR 1.899, 95% CI 1.034-3.487; A vs G: OR 1.667, 95% CI 1.033-2.689, OR 1.777, 95% CI 1.103-2.863). Additionally, A-G haplotype of rs3807989-rs1049334 showed the protective role for HBV-related HCC (OR 0.102, 95% CI 0.035-0.293; OR 0.135, 95% CI 0.046-0.395).CAV1 rs1049334 polymorphism is significantly associated with the occurrence risk of HBV-related HCC, and the interaction of polymorphisms should not be neglected.
本研究旨在探讨中国汉族人群中窖蛋白-1基因(CAV1)多态性与乙型肝炎病毒相关肝细胞癌(HBV相关HCC)易感性的遗传关联。采用聚合酶链反应-限制性片段长度多态性方法进行多态性基因分型。检测健康对照中多态性的基因型分布是否符合哈迪-温伯格平衡(HWE)。通过卡方检验比较两组间的基因型和等位基因频率差异。计算比值比(OR)和95%置信区间(95%CI)以显示CAV1基因变异导致HCC的相对风险。此外,利用Haploview分析CAV1多态性的连锁不平衡。rs1049334的AG基因型和A等位基因在HCC患者中的频率显著高于慢性HBV患者和健康对照(P<0.05);因此,无论个体是否感染乙型肝炎病毒,其携带均明显增加了HBV相关HCC的易感性(AG与GG:OR 1.958,95%CI 1.050 - 3.650,OR 1.899,95%CI 1.034 - 3.487;A与G:OR 1.667,95%CI 1.033 - 2.689,OR 1.777,95%CI 1.103 - 2.863)。此外,rs38