Cichoz-Lach Halina, Partycka Jadwiga, Nesina Irina, Celiński Krzysztof, Słomka Maria
Katedry i Kliniki Gastroenterologii z Pracownia Endoskopowa, Akademii Medycznej w Lublinie.
Wiad Lek. 2006;59(11-12):757-61.
Alcoholism is a significant medical, social, and economic problem. Genetic polymorphism of enzymes involved in alcohol metabolism plays a relevant role in etiopathogenesis of alcohol disease and alcohol liver cirrhosis. The aim of the study was the evaluation of the influence of genetic polymorphism of CYP2E1 on the development of the alcohol abuse and alcohol liver cirrhosis the Polish population.
The CYP2E1 genotype and c1 and c2 alleles frequency were examined in 188 patients. Genotyping of the CYP2E1 was performed using polymerase chain reaction-restriction fragment length polymorphism method on white cell DNA.
In the examined population encompassing 188 subjects the c2 allele was present only in 1.06% 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. The c1/c2 genotype was present in 2.12% of subjects. The c2/c2 genotype was not found in any patient. Heterozygotes cl/c2 were present only in 7% of patients with alcohol liver cirrhosis. The c2 allele and cl/c2 genotype occurred statistically significantly more frequently in patients with alcohol cirrhosis than in control group. Patients possessing the c2 allele and cl/c2 genotype statistically significantly earlier initiated the alcohol abusing than those in which the c1 allele and c1/c1 genotype were present.
Our studies suggest that the frequency of allele c2 in Polish population is low, but the presence of c2 allele may be a risk factor for the alcohol liver cirrhosis.
酒精中毒是一个重大的医学、社会和经济问题。参与酒精代谢的酶的基因多态性在酒精性疾病和酒精性肝硬化的病因发病机制中起相关作用。本研究的目的是评估CYP2E1基因多态性对波兰人群酒精滥用和酒精性肝硬化发展的影响。
检测了188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。
在包括188名受试者的研究人群中,c2等位基因仅在1.06%的患者中出现。仅在酒精滥用患者中发现。在酒精性肝硬化患者组中,其出现率为3.5%。c1/c2基因型在2.12%的受试者中出现。未在任何患者中发现c2/c2基因型。杂合子cl/c2仅在7%的酒精性肝硬化患者中出现。c2等位基因和cl/c2基因型在酒精性肝硬化患者中的出现频率在统计学上显著高于对照组。拥有c2等位基因和cl/c2基因型的患者在统计学上比拥有c1等位基因和c1/c1基因型的患者更早开始酗酒。
我们的研究表明,波兰人群中c2等位基因的频率较低,但c2等位基因的存在可能是酒精性肝硬化的一个危险因素。