Wojnowski Leszek, Turner Paul C, Pedersen Bonnie, Hustert Elisabeth, Brockmöller Jürgen, Mendy Maimuna, Whittle Hilton C, Kirk Greg, Wild Christopher P
Department of Pharmacology, University Mainz, Obere Zahlbacher Str. 67, D-55101 Mainz, Germany.
Pharmacogenetics. 2004 Oct;14(10):691-700. doi: 10.1097/00008571-200410000-00007.
Major risk factors for hepatocellular carcinoma (HCC) are hepatitis viruses and exposure to aflatoxins, including aflatoxin B1 (AFB1). The mutagenic effect of AFB1 results from hepatic bioactivation to AFB1-exo-8,9-epoxide. This is in part catalysed by CYP3A5, an enzyme expressed polymorphically. We investigated the role of CYP3A5 polymorphisms in the formation of AFB1-exo-8,9-epoxide in The Gambia, a population exposed to high aflatoxin levels.
Common CYP3A5 polymorphisms were identified in an African-American population. Subsequently, 288 Gambian subjects were genotyped and CYP3A5 activity predicted using haplotypes of the three variant loci (CYP3A5*3, *6 and *7) associated with decreases in protein expression. CYP3A5 expression was then compared to aflatoxin-albumin (AF-alb) adduct, a biomarker of AFB1 bioactivation; data were also analysed in relation to expression of other aflatoxin-metabolizing enzymes.
CYP3A5 haplotypes reflecting high CYP3A5 protein expression were associated with increased AF-alb. Compared to individuals with predicted low expression those predicted to express CYP3A5 from one allele displayed 16.1% higher AF-alb (95% CI: -2.5, 38.2, P = 0.093) and homozygous expressers displayed 23.2% higher AF-alb levels (95% CI: -0.01, 52.0, P = 0.051). The effect of the CYP3A5 polymorphism was strongest in individuals with low CYP3A4 activity with a 70.1% increase in AF-alb (95% CI: 11.8, 158.7, P < 0.05) in high compared to low expressers. A similar effect was observed for individuals with null alleles of GSTM1, which conjugates the AFB1-exo-8,9-epoxide to reduced glutathione.
The CYP3A5 polymorphism is associated with increased levels of the mutagenic AFB1-exo-8,9-epoxide, particularly in individuals with low CYP3A4, and this may modulate individual risk of HCC.
肝细胞癌(HCC)的主要危险因素是肝炎病毒和接触黄曲霉毒素,包括黄曲霉毒素B1(AFB1)。AFB1的致突变作用源于其在肝脏中生物活化为AFB1-exo-8,9-环氧化物。这部分是由CYP3A5催化的,该酶具有多态性表达。我们在冈比亚这个黄曲霉毒素暴露水平较高的人群中,研究了CYP3A5基因多态性在AFB1-exo-8,9-环氧化物形成中的作用。
在非裔美国人人群中鉴定常见的CYP3A5基因多态性。随后,对288名冈比亚受试者进行基因分型,并使用与蛋白质表达降低相关的三个变异位点(CYP3A5*3、6和7)的单倍型预测CYP3A5活性。然后将CYP3A5表达与黄曲霉毒素-白蛋白(AF-alb)加合物(AFB1生物活化的生物标志物)进行比较;还分析了与其他黄曲霉毒素代谢酶表达相关的数据。
反映CYP3A5蛋白高表达的单倍型与AF-alb增加有关。与预测低表达个体相比,预测从一个等位基因表达CYP3A5的个体AF-alb水平高16.1%(95%CI:-2.5,38.2,P = 0.093),纯合表达个体的AF-alb水平高23.2%(95%CI:-0.01,52.0,P = 0.051)。CYP3A5基因多态性的影响在CYP3A4活性低的个体中最强,高表达者与低表达者相比,AF-alb增加70.1%(95%CI:11.8,158.7,P < 0.05)。对于谷胱甘肽S-转移酶M1(GSTM1)无功能等位基因的个体也观察到类似效应,GSTM1可将AFB1-exo-8,9-环氧化物与还原型谷胱甘肽结合。
CYP3A5基因多态性与致突变性AFB1-exo-8,9-环氧化物水平升高有关,尤其是在CYP3A4水平低的个体中,这可能会调节个体患HCC的风险。