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环氧化物水解酶基因多态与肝癌的遗传易感性
Association between the Genetic Polymorphism of Epoxide Hydrolase and the Genetic Susceptibility to Primary Liver Cancer
【摘要】 目的 探讨环氧化物水解酶基因 (EPHX1)多态与肝癌遗传易感性的关系。方法 应用PCR RFLP技术检测 88例肝癌患者和 10 4例人群对照的EPHX1基因型。结果 病例组和对照组EPHX1第 3外显子第 113密码子的Tyr/Tyr、Tyr/His和His/His基因型的频率分别为 0 .195、0 .4 0 2、0 .4 0 2和 0 .317、0 .4 2 3、0 .2 6 0 ,两组差异无显著性 ( χ2 =5 .17,P =0 .0 75 ) ;第 4外显子第 139密码子的His/His、His/Arg和Arg/Arg基因型的频率分别为 0 .85 2、0 .136、0 .0 12和 0 .6 83、0 .30 8、0 .0 0 9,两组差异有显著性 ( χ2 =7.92 ,P =0 .0 19)。具有 113His/His基因型者发生肝癌的危险性增加 ,OR值为 2 .38( 95 %CI :1.0 4~ 5 .4 9) ;具有 139His/Arg基因型者发生肝癌的危险性降低 ,OR值为 0 .36 ( 95 %CI:0 .16~ 0 .78)。将EPHX1第 3外显子基因型Tyr/His和His/His视为易感基因型 ,则吸烟与之在肝癌发生中存在交互作用 ,OR值为 3.90 ( 95 %CI :1.31~ 12 .0 2 ) ;将第 4外显子基因型His/His视为易感基因型 ,则吸烟和职业暴露与之在肝癌发生中均存在交互作用 ,其OR值分别为 4 .5 3( 95 %CI:1.5 6~ 13.6 1)和 8.4 4 ( 95 %CI :2 .36~ 31.90 )。结论 EPHX1可能为肝癌的易感基因之一。
【Abstract】 Purpose To assess the association between the genetic polymorphisms of epoxide hydrolase gene (EPHX1) and the susceptibility to primary liver cancer (PLC). Methods The EPHX1 genotypes of 88 patients with PLC and 104 healthy controls were detected with polymerase chain reaction followed by res triction fragment length polymorphism. Results In PLC cases and controls,the frequencies of Tyr/Tyr,Tyr/His and His/His genotypes at codon 113 of exon 3 of gene EPHX1 were 0.195,0.402,0.402 and 0.317 ,0.423,0.260 respectively.There was no statistically significant difference between the two groups ( χ 2=5.17, P=0.075 ).The frequencies of His/His,His/Arg and Arg/Arg genotypes at codon 139 of exon 4 of gene EPHX1 we re 0.852,0.136,0.012 and 0.683,0.308,0.009 respectively.There was statistically significant difference between the two groups (χ 2=7.92,P=0.019).Individuals with 113 His/His were at an increased risk of developing PLC(OR=2.38,95%CI:1.04-5.49).Individuals with 139 His/Arg were at a significantly decreased risk of developing PLC (OR=0.36,95%CI:0.16-0.78).Smoking was interacted with susceptible genotypes ( Tyr/His and His/His ) at coden 113 of exon 3 of EPHX1 in the development of PLC,with the odds ratio of 3.90 (95%CI:1.31-12.02).Both smoking and occupational exposures were respectively interacted with susceptible genetype ( His/His ) at coden 139 of exon 4 of EPHX1 ,with the odds ratios of 4.53 (95%CI:1.56-13.61) and 8.44 (95%CI:2.36-31.90). Conclusions EPHX1 is one of the susceptible genes for PLC.
【Key words】 liver neoplasm; epoxide hydrolase; genetic polymorphism; risk factors;
- 【文献出处】 复旦学报(医学版) ,Journal of Shanghai Medica(University) , 编辑部邮箱 ,2004年04期
- 【分类号】R735.7
- 【被引频次】12
- 【下载频次】196