rs586610基因位点多态性与中国辽宁省人群原发性肝癌易感性关系的验证  

Study on the relationship between rs586610 polymorphisms and susceptibility to primary hepatic cancer in Liaoning Province,China

作　　者：全晓薇 夏玲姿 王芊芊[1] 张莹[1] 屈若祎 周宝森[1] 

机构地区：[1]中国医科大学公共卫生学院流行病学教研室,辽宁沈阳110122

出　　处：《中华疾病控制杂志》2015年第11期1079-1082,共4页Chinese Journal of Disease Control & Prevention

基　　金：美国中华医学基金会(CBM00726)

摘　　要：目的本研究旨在结合表达数量性状位点（expression quantitative trait loci，eQTL）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m586610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％C／：0．707～1．466，P=0．924）、遗传隐性模型（OR=0．855，95％CI：O．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m586610位点的多态性与原发性肝癌易感性相关，但还需在不同人群中进一步探究。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 the SNP and the risk of primary liver cancer. Results 16 GWAS of primary liver cancer studies were included and 21 SNPs were introduced, rs586610 was predicted to be a causal SNP. However, no significant difference was observed between rs586610 and the risk of primary liver cancer in dominant model （ OR = 1.018,95 % CI：O. 707-1. 466,P = 0. 924）, recessive model （ OR = O. 855,95 % CI：O. 362-2. 017, P = 0. 720 ） or codominant model （P = 0. 919） in this case-control study. Conclusions No association was observed between rs586610 and susceptibility to primary liver cancer, which might need further studies in different populations to confirm the result.

关 键 词：肝肿瘤 疾病易感性 数量性状基因座位 

分 类 号：R735.7[医药卫生—肿瘤] R181.1[医药卫生—临床医学]