CYP1B1、CYP3A4和CYP3A5基因多态性与急性淋巴细胞白血病风险的相关性  

Association of CYP1B1,CYP3A4 and CYP3A5 Gene Polymorphisms with Risk of Acute Lymphoblastic Leukemia

作　　者：刘晓玉[1] 刘晓庆 徐建利[3] LIU Xiaoyu;LIU Xiaoqing;XU Jianli(Department of Hematopathology,Weihai Municipal Hospital,Weihai Shandong 727000,China)

机构地区：[1]威海市立医院血液内科,山东威海264200 [2]乳山市人民医院泌尿胸外科 [3]威海市立医院化验室

出　　处：《解放军预防医学杂志》2018年第11期1381-1384,共4页Journal of Preventive Medicine of Chinese People's Liberation Army

基　　金：青岛市卫生科技计划项目(No.2016-WJZD008)

摘　　要：目的分析CYP1B1、CYP3A4和CYP3A5基因多态性与急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)风险的相关性。方法选择2015年1月-2018年1月威海市立医院血液内科收治的ALL患者120例为病例组,同期选择健康人群120例为对照组,分别采集两组血液样本。采用焦磷酸测序基因分型技术对rs1056836、rs2740574和rs776746三个位点进行分型。应用SPSS 19.0软件统计候选基因多态性与ALL患病风险的相关性。结果三个候选SNP均符合Hardy-Weinberg平衡定律(P-HWE>0.05)。病例组CYP1B1基因rs1056836位点和CYP3A4基因rs2740574位点的最小等位基因G频率显著高于对照组;而CYP3A5基因rs776746位点的最小等位基因A频率显著低于对照组(P<0.05)。此外,病例组rs1056836位点的GC和GG基因型频率高于对照组,rs2740574位点的AG和GG基因型频率亦高于对照组,而rs776746位点的AG基因型频率低于对照组(P<0.05)。遗传模型分析表明,rs1056836位点在显性、隐性、加性三个遗传模型下均与增加ALL风险具有相关性; rs2740574位点在显性和加性模型下与增加ALL风险具有相关性;而rs776746位点在显性模型下与降低ALL风险具有相关性(P<0.05)。结论 CYP1B1基因rs1056836位点和CYP3A4基因rs2740574位点可能与增加ALL风险相关,而CYP3A5基因rs776746位点可能与降低ALL风险相关。Objective To investigate the association between CYP1B1, CYP3A4 and CYP3A5 gene polymorphisms andthe risk of acute lymphoblastic leukemia （ALL）. Methods A total of 120 patients with ALL treated at the Department of Hematology, Weihai Municipal Hospital, between January 2015 and January 2018 were recruited as the case group, and anthor 120healthy individuals were also selected as the control group. Blood samples of the two groups were collected. Genotypes ofrs1056836, rs2740574 and rs776746 were detected using Sequenom MassARRAY SNP genotyping method. The association between candidate gene polymorphisms and the risk of ALL was assessed using SPSS 19. 0 software. Results All the three candidateSNPs were consistent with the Hardy-Weinberg equilibrium law （P-HWE〉0. 05）. The frequencies of the minor allele ＂ G＂ ofrs1056836 on CYP1B1 and rs2740574 on CYP3A4 in the case group were significantly higher than those in the control group,while the frequency of the minor allele ＂ A＂ of rs776746 on CYP3A5 was significantly lower than that of the control group（P〈0. 05）. In addition, the ＂GC＂ and ＂GG＂ genotype frequencies of rs1056836 in the case group were higher than those in thecontrol group, so were the ＂AG＂ and ＂GG＂ genotype frequencies of rs2740574, while the ＂AG＂ genotype frequency of rs776746was lower than that of the control group （P〈0. 05）. Genetic model analysis showed that rs1056836 was associated with increasedrisk of ALL under the dominant, recessive, and additive genetic models, rs2740574 was associated with increased risk of ALLunder dominant and additive models, and that rs776746 was associated with decreased risk of ALL in the dominant model（P〈0. 05）. Conclusion The rs1056836 of CYP1B1 and rs2740574 of CYP3A4 may be associated with increased risk of ALL,whereas the rs776746 of CYP3A5 may be associated with decreased risk of ALL.

关 键 词：急性淋巴细胞白血病 细胞色素酶基因 基因多态性 关联分析 

分 类 号：R733.71[医药卫生—肿瘤]