Tseng Yang-Ming, Hu Bow-Wen, Tsai Shih-Meng, Chen Ing-Jun, Jin Yi-Ru, Lee Jang-Hwa, Huang Fong-Dee, Wu Szu-Hsien, Yeh Fa-Lai, Tsai Li-Yu
Institute of Medicine, Kaohsiung Medical University, Kaohsiung 80702, Taiwan.
Clin Biochem. 2007 Mar;40(5-6):370-6. doi: 10.1016/j.clinbiochem.2006.11.012. Epub 2007 Jan 5.
The objective of this study was to investigate the distribution of genetic polymorphisms of alcohol-metabolizing enzymes in trauma patients with excessive alcohol consumption in the emergency department (ED).
A total of 100 trauma patients and age-matched control subjects composed of 98 participants were enrolled in this study. The activities of liver enzymes and genotypes of alcohol-metabolizing enzymes, including ADH2, ALDH2, and CYP2E1, were analyzed with the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.
There was a significant difference in the allele frequencies of ALDH2 between the two groups. For the genotypes, there were significant differences in the genotype frequencies of ADH2 and ALDH2. There was also a significantly lower frequency in patients with the ALDH2*2 phenotype than those of the controls. For the activities of liver enzymes, there were significant differences between the two groups. For ADH2 and ALDH2, there were significantly higher ORs (odds ratios) in trauma patients with normal activity than those with weak or intermediate activity but there were no significant difference in CYP2E1 genotype between two groups. To investigate the interaction of alcohol-metabolizing enzyme genotypes, we have estimated the odds ratios in two alcohol-metabolizing pathways. The ORs of the combined genotypes of ADH2 (*1/*1+*1/*2) and ALDH2 (*1/*1) and the combined genotypes of either CYP2E1 (*c1/*c1) or CYP2E1 (*c1/*c2+*c2/*c2) and ALDH2 (*1/*1) were significantly higher than that of the reference group in the major and the minor pathway, respectively.
Genetic variation of alcohol-metabolizing enzymes, especially ALDH2, may play an important role on the occasions of alcohol problems in the emergency department.
本研究旨在调查急诊科有过量饮酒情况的创伤患者中酒精代谢酶基因多态性的分布。
本研究共纳入100例创伤患者和98例年龄匹配的对照受试者。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析法分析肝酶活性及酒精代谢酶（包括ADH2、ALDH2和CYP2E1）的基因型。
两组之间ALDH2的等位基因频率存在显著差异。就基因型而言，ADH2和ALDH2的基因型频率存在显著差异。ALDH2*2表型患者的频率也显著低于对照组。就肝酶活性而言，两组之间存在显著差异。对于ADH2和ALDH2，活性正常的创伤患者的优势比（OR）显著高于活性弱或中等的患者，但两组之间CYP2E1基因型无显著差异。为了研究酒精代谢酶基因型的相互作用，我们估计了两条酒精代谢途径中的优势比。ADH2（*1/*1+*1/*2）和ALDH2（*1/*1）的联合基因型以及CYP2E1（*c1/*c1）或CYP2E1（*c1/*c2+*c2/*c2）与ALDH2（*1/*1）的联合基因型在主要途径和次要途径中的优势比分别显著高于参考组。
酒精代谢酶的基因变异，尤其是ALDH2，可能在急诊科出现酒精问题时发挥重要作用。
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