目的本研究旨在结合表达数量性状位点(expression quantitative trait loci,e QTL)信息,对关于原发性肝癌的全基因组关联分析(genome-wide association studies,GWAS)研究结果进行验证,并为探究单核苷酸多态性(single nucleotide polymorphism,SNP)与原发性肝癌易感性的因果关系提供证据。方法本研究汇总了已发表的关于原发性肝癌的GWAS研究结果,利用生物信息学预测SNP,并通过病例对照研究进一步验证。本研究共纳入492例研究对象,其中病例组242例,对照组250例。结果本研究共汇总关于原发性肝癌的GWAS研究16篇,共报导SNP位点21个。通过生物信息学预测出rs586610位点可能与原发性肝癌易感性有关。病例对照研究发现rs586610位点在病例组与对照组之间的分布在遗传显性模型(OR=1.018,95%CI:0.707~1.466,P=0.924)、遗传隐性模型(OR=0.855,95%CI:0.362~2.017,P=0.720)、共显性模型(P=0.919)中的差异均无统计学意义。结论尚不能认为rs58661...
【英文摘要】
Objective The aim of this study is to testify the genome-wide association studies( GWAS) of primary hepatic cancer,and provide the evidence for studies of the causalities between single nucleotide polymorphism( SNP) and susceptibility to primary liver cancer. Methods Published GWAS of primary liver cancer were reviewed and the probably causal of SNPs were predicted by bioinformatic tools. Then,a case-control study involving 242 patients and 250 controls was conducted to investigate the association between t...
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