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波兰人群中CYP2E1基因多态性与消化道酒精损伤

Genetic polymorphism of CYP2E1 and digestive tract alcohol damage among Polish individuals.

作者信息

Cichoz-Lach Halina, Partycka Jadwiga, Nesina Irina, Wojcierowski Jacek, Słomka Maria, Celiński Krzysztof

机构信息

Department of Gastroenterology, Medical University of Lublin, Lublin, Poland.

出版信息

Alcohol Clin Exp Res. 2006 May;30(5):878-82. doi: 10.1111/j.1530-0277.2006.00102.x.

Abstract

BACKGROUND

Genetic polymorphism of enzymes involved in alcohol metabolism plays a relevant role in etiopathogenesis of alcohol disease. The aim of the present study was to find in the Polish population the CYP2E1 genotypes that are likely to be responsible for higher susceptibility to alcohol disease of the liver and chronic alcohol pancreatitis.

METHODS

The CYP2E1 genotype and c1 and c2 alleles frequency were examined in 198 patients. Genotyping of the CYP2E1 was performed using polymerase chain reaction-restriction fragment length polymorphism methods on white cell DNA.

RESULTS

In the examined population encompassing 198 subjects, the c2 allele was present only in 1.5% of patients. It was found only in patients abusing alcohol. In the group of patients with alcoholic cirrhosis, it was present in 3.5% of cases, whereas in patients with chronic alcoholic pancreatitis, in 2.3%. The genotype c1/c2 was present in 3% of subjects. The genotype c2/c2 was not found in any patient. Heterozygotes c1/c2 were present only in patients consuming excessive amounts of ethanol; in 7% of patients with alcoholic cirrhosis and in 4.5% of those with chronic alcoholic pancreatitis. The c2 allele occurred only in men. None of the examined women had the genotype c1/c2.

CONCLUSIONS

Our studies suggest that the frequency of the c2 alleles in Polish population is low. Because of their rare frequency, it is difficult to conclude explicitly that the presence of the c2 allele promotes alcoholic damage to alimentary organs among Poles. It seems, however, that they pose the risk of alcoholic cirrhosis; their role in chronic alcoholic pancreatitis is difficult to assess.

摘要

背景

参与酒精代谢的酶的基因多态性在酒精性疾病的发病机制中起重要作用。本研究的目的是在波兰人群中寻找可能导致肝脏酒精性疾病和慢性酒精性胰腺炎易感性增加的CYP2E1基因型。

方法

检测了198例患者的CYP2E1基因型及c1和c2等位基因频率。采用聚合酶链反应-限制性片段长度多态性方法对白细胞DNA进行CYP2E1基因分型。

结果

在198名受试者的研究人群中,c2等位基因仅在1.5%的患者中出现。仅在酗酒患者中发现。在酒精性肝硬化患者组中,其出现率为3. Five%, whereas in patients with chronic alcoholic pancreatitis, in 2.3%.基因型c1/c2在3%的受试者中出现。未在任何患者中发现基因型c2/c2。杂合子c1/c2仅出现在过量饮酒的患者中;在7%的酒精性肝硬化患者和4.5%的慢性酒精性胰腺炎患者中出现。c2等位基因仅在男性中出现。所有受试女性均无基因型c1/c2。

结论

我们的研究表明,波兰人群中c2等位基因的频率较低。由于其出现频率较低,难以明确得出c2等位基因的存在会促进波兰人酒精对消化器官损害的结论。然而,似乎它们会增加酒精性肝硬化的风险;它们在慢性酒精性胰腺炎中的作用难以评估。

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