GSTP1、CYP2E1基因遗传多态性与急性白血病易感性的关系  

Relation of GSTP1 and CTP2E1Polymorphisms with Susceptibility to Acute Leukemia

作　　者：席亚明[1] 石秀娥[2] 张豪[1] 贾明峰[1] 李明[1] 李培[1] 徐建旺[1] 马海珍[1] 姚小健[1] 

机构地区：[1]甘肃省兰州大学第一医院血液科,血液学研究所 [2]甘肃省康复中心医院老年病科,甘肃兰州730000

出　　处：《中国实验血液学杂志》2011年第3期589-593,共5页Journal of Experimental Hematology

基　　金：甘肃省科技计划资助项目;编号0708NKCA113

摘　　要：本研究旨在探讨谷胱甘肽巯基转移酶P1(GSTP1)和细胞色素P4502E1(CYP2E1)基因多态性与急性白血病易感性的关系。采用1∶1配对病例-对照、LDR分型方法对150例急性白血病(AL)患者和150例对照组进行GSTP1和CYP2E1的基因多态性进行检测。结果表明:AL病例组GSTP1基因G等位基因频率(26.7%)和Ile/Val和Val/Val基因型频率(44%)均高于对照组(10%和16%)。携带突变基因型(Ile/Val和Val/Val)个体发生AL的相对风险度为Ile/Ile个体的3.226倍(95%CI=1.527-5.236)。进一步分层分析表明,急性髓系白血病(AML)病例组Ile/Val和Val/Val基因型频率(55.0%)高于对照组(16%)(p<0.05)。携带Ile/Val和Val/Val基因型的个体发生AML的相对风险度为野生基因型(Ile/Ile)个体的2.214倍(95%CI=1.009-3.260)。AL病例组CYP2E1基因C2等位基因频率(16.7%)和C1C2/C2C2基因型频率(30%)均高于对照组(13.9%和26%),但其差异均无统计学意义。进一步分层分析显示,急性髓系白血病(AML)病例组突变基因型(C1C2/C2C2)频率(36%)高于对照组(32%),其差异无统计学意义。两基因多态交互作用分析显示,GSTP1杂合型和突变型者(Ile/Val+Val/Val)且CYP2E1杂合型和突变型者(C1C2+C2C2)发生AML的风险约增加3.208倍。结论 :GSTP1与急性髓系白血病易感性相关,携带GSTP1突变基因型(Ile/Val+Val/Val)个体可降低白血病的发病风险;CYP2E1与急性白血病易感性无关,GSTP1野生型且CYP2E1杂合型和突变型联合作用可进一步降低AML的发病风险。This study was aimed to investigate the relation of glutathione S-transferase pI （ GSTP1 ） and cytochrome P450 enzyme 2El （CYP2E1） gene polymorphisms with the susceptibility to acute leukemia （AL） in Chinese population. The GSFP1 and CTP2E1 gene polymorphisms in 150 patients with AL and 150 patients with non-hematological diseases or non-tumor as controls were detected by means of case-control paired 1 ： 1 method and ligase detection reaction （LDR） techniques. The results indicated that the frequently of G allele and lle/Val ＋ Val/Val of GSTP1 gene （26.7% and 44% respectively） in AL group were higher than those in control group （10% and 16% respectively） ; the AL risk for persons with Ile/Val ＋ Val/Val was 3. 260-fold （95% CI = 1. 527 -5. 236） of persons with lie/lie. The further stratified analysis showed the frequency of lle/Val ＋ Val/Val in AML group was higher than that in control group （55% vs 16%, p 〈0.05） ; the AML risk for persons with lle/Val ＋ Val/Val was 2. 214-fold （95% CI = 1. 009 - 3. 260） as persons with lie/lie. The frequencies of C2 allele（ 16.7% ） and CIC2/C2C2 of CYP2E1 gene （30%） in AL group seemed higher than those in control groups （ 13.9% and 26% ）, but the difference between them was not statistical significant （p 〉0.05）. The further stratified analysis showed that CIC2/C2C2 of CYP2E1 gene occurred more frequently in AML group （36%） than that in control group （32%） , but there was no statistical difference between them （p 〉 0.05 ）. Combined genotype analysis showed that the AML risk for persons in combination of Ue/Val ＋ Val/Val of GSTP1 gene with C1C2 ＋ C2C2 of CYP2E1 gene increased by 3. 208-fold. It is concluded that the GSTP1 gene is related with susceptibility to AML, the AL risk for persons with lle/Val ＋ Val/Val of GSTP1 gene decreased, while CYP2E1 gene is not related with susceptibility to AL, the AML risk for persons in combination of GSTP1 wildtype with CYP2E1 hybrid and mutant genotype can be

关 键 词：谷胱甘肽巯基转移酶P1 细胞色素P4502E1 基因多态性 白血病易感性 白血病 

分 类 号：R733.71[医药卫生—肿瘤]