Kimura S, Okabayashi Y, Inushima K, Kochi T, Yutsudo Y, Kasuga M
Second Department of Internal Medicine, Kobe University School of Medicine, Japan.
Dig Dis Sci. 2000 Oct;45(10):2013-7. doi: 10.1023/a:1005650902961.
In order to clarify the genetic factors in alcohol-related chronic pancreatitis among Japanese, we determined the genotype of two major alcohol-metabolizing enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). The restriction fragment-length polymorphisms of the ADH2 and the ALDH2 genes were analyzed in 47 normal subjects and 31 patients with alcoholic pancreatitis. No significant difference between the patient and control groups was found in the ADH2 genotypes. A significant genetic difference between the two groups was found in the ALDH2 locus. The frequency of the ALDH21 allele was found to be 0.681 and that of the ALDH22 allele was 0.319 in the controls, while these values were 0.935 and 0.065 in the patients, respectively. Most of the patients (27 of 31) were ALDH21/21, only four were ALDH21/22, and none of the patients were ALDH22/22. These results indicate that genetic polymorphism of the ALDH2 gene influences the risk of developing alcoholic pancreatitis in Japanese.
为了阐明日本人群中酒精相关性慢性胰腺炎的遗传因素，我们测定了两种主要酒精代谢酶，即乙醇脱氢酶（ADH）和乙醛脱氢酶（ALDH）的基因型。我们对47名正常受试者和31例酒精性胰腺炎患者的ADH2和ALDH2基因的限制性片段长度多态性进行了分析。患者组和对照组之间的ADH2基因型未发现显著差异。两组在ALDH2基因座存在显著的遗传差异。在对照组中，ALDH21等位基因频率为0.681，ALDH22等位基因频率为0.319，而在患者组中，这些值分别为0.935和0.065。大多数患者（31例中的27例）为ALDH21/21，只有4例为ALDH21/22，没有患者为ALDH22/22。这些结果表明，ALDH2基因的遗传多态性影响日本人患酒精性胰腺炎的风险。
