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一种与酒精性肝硬化遗传易感性相关的新基因变异:白细胞介素-2基因-330T>G多态性。

A new genetic variant involved in genetic susceptibility to alcoholic liver cirrhosis: -330T>G polymorphism of the interleukin-2 gene.

作者信息

Marcos Miguel, Pastor Isabel, González-Sarmiento Rogelio, Laso Francisco-Javier

机构信息

Alcoholism Unit, Service of Internal Medicine, University Hospital of Salamanca, Salamanca, Spain.

出版信息

Eur J Gastroenterol Hepatol. 2008 Sep;20(9):855-9. doi: 10.1097/MEG.0b013e3282fd0db1.

DOI:10.1097/MEG.0b013e3282fd0db1
PMID:18794598
Abstract

OBJECTIVE

Genetic factors may determine susceptibility to develop alcoholic liver cirrhosis, although it remains uncertain why only a minority of alcoholics suffers from this disease. A decrease in serum levels of interleukin-2 (IL-2) is usually found in alcoholic cirrhotics. In this study we examined the relationship between the -330T>G IL-2 gene (IL2) polymorphism and alcoholic liver cirrhosis.

METHODS

Genotyping of the aforementioned polymorphism was done by polymerase chain reaction and digestion with restriction enzymes in 257 male alcoholics (161 without liver disease and 96 with alcoholic liver cirrhosis) and 101 healthy controls. A logistic regression analysis was performed to adjust for potential confounders and to analyze the model of inheritance.

RESULTS

We found an association between the -330T>G IL2 polymorphism and alcoholic liver cirrhosis: the frequency of the allele T carriers (genotype TT and GT) was significantly higher in alcoholics with cirrhosis (96.9%) than in those without liver disease (89.4%, P=0.043).

CONCLUSION

We report for the first time that the possession of the -330T allele of the IL2 is associated with a higher risk of developing alcoholic liver cirrhosis and this fact may favor the progression of alcoholic liver disease.

摘要

目的

遗传因素可能决定发生酒精性肝硬化的易感性,尽管为何只有少数酗酒者患此病仍不确定。酒精性肝硬化患者通常血清白细胞介素-2(IL-2)水平降低。在本研究中,我们检测了IL-2基因(IL2)-330T>G多态性与酒精性肝硬化之间的关系。

方法

采用聚合酶链反应和限制性内切酶消化法对257名男性酗酒者(161名无肝病者和96名酒精性肝硬化患者)及101名健康对照者进行上述多态性基因分型。进行逻辑回归分析以调整潜在混杂因素并分析遗传模式。

结果

我们发现IL2 -330T>G多态性与酒精性肝硬化之间存在关联:肝硬化酗酒者中T等位基因携带者(基因型TT和GT)的频率(96.9%)显著高于无肝病者(89.4%,P = 0.043)。

结论

我们首次报道,携带IL2的-330T等位基因与发生酒精性肝硬化的较高风险相关,这一事实可能有利于酒精性肝病的进展。

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