Higuchi S, Matsushita S, Murayama M, Takagi S, Hayashida M
National Insitute on Alcoholism, Kurihama National Hospital, Kanagawa, Japan.
Am J Psychiatry. 1995 Aug;152(8):1219-21. doi: 10.1176/ajp.152.8.1219.
The authors studied a large number of Japanese alcoholic patients and comparison subjects to establish the genotype frequencies of alcohol dehydrogenase-2 (ADH2) and mitochondrial aldehyde dehydrogenase (ALDH2) and to quantify the relative risk for alcoholism from the results.
The subjects were 655 alcoholic patients and 461 comparison subjects. ADH2 and ALDH2 were genotyped by the combination of polymerase chain reaction and hybridization methods.
Active ALDH2 and usual ADH2 were significantly more frequent in the alcoholic patients. Inactive ALDH2 was not always associated with a low risk of alcoholism, and active ALDH2 was not always associated with high risk. In individuals with heterozygous inactive ALDH2 and usual ADH2, the odds ratio for alcoholism was high.
The risk for alcoholism in Japanese has been accurately estimated on the basis of the genotype frequencies of ADH2 and ALDH2. Many Japanese may be protected from alcoholism by inactive ALDH2 and by higher frequencies of atypical ADH2.
作者研究了大量日本酗酒患者及对照对象，以确定酒精脱氢酶-2（ADH2）和线粒体乙醛脱氢酶（ALDH2）的基因型频率，并根据结果量化酗酒的相对风险。
研究对象为655名酗酒患者和461名对照对象。采用聚合酶链反应和杂交方法相结合对ADH2和ALDH2进行基因分型。
活性ALDH2和常见ADH2在酗酒患者中显著更为常见。无活性ALDH2并不总是与低酗酒风险相关，活性ALDH2也并不总是与高风险相关。在具有杂合性无活性ALDH2和常见ADH2的个体中，酗酒的优势比很高。
基于ADH2和ALDH2的基因型频率，已准确估计出日本人酗酒的风险。许多日本人可能因无活性ALDH2和较高频率的非典型ADH2而免受酗酒影响。
