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机构地区:[1]甘肃中医学院临床医疗系,甘肃省兰州市730000 [2]兰州大学第一医院消化科,甘肃省兰州市730000
出 处:《世界华人消化杂志》2007年第16期1825-1829,共5页World Chinese Journal of Digestology
摘 要:目的:探讨细胞色素P4502E1(CYP2E1)酶基因多态性与非酒精性脂肪性肝病(NAFLD)的关系及NAFLD的遗传学发病机制.方法:采用聚合酶链反应——限制性片段长度多态性分析法(PCR-RFLP)对40例非酒精性脂肪肝患者,20例酒精性肝病患者,20例非脂肪肝对照者,20例正常对照者分析CYP2E1基因多态性,并进行相关性分析.结果:NAFLD中c2等位基因型与正常对照组(x^2=8.376,P=0.004)和非脂肪肝对照组(x^2= 6.769,P=0.005)相比明显升高,差异有统计学意义(P<0.01),NAFLD中基因型分布与酒精性肝病相比无明显改变,差异无统计学意义(P =0.896).在NAFLD中肝脏病变程度不同,c2等位基因频率不同,在脂肪性肝炎(P=0.04)和肝硬化(P=0.000)中,差异有统计学意义(P<0.05).结论:NAFLD与CYP2E1酶基因多态性有关,同时也为研究NAFLD遗传易感性提供了新的思路.AIM: To investigate correlations between cytochrome P4502E1 (CYP2E1) enzyme gene polymorphisms and non-alcoholic fatty liver disease (NAFLD). METHODS: A polymerase chain reaction-restric- tion fragment length polymorphism (PCR-RFLP) method was used to determined polymorphisms of CYP2E1 Pst I and Rsa I sites. RESULTS: Genotypes were separated into three: type A (homozygous for c1 gene), type B (heterozygous for c1/c2 gene), and type C (ho mozygous for c2 gene). In 20 healthy controls, cl frequency was 85.0% and c2 15.0%. In 40 patients with NAFLD, cl was 58.8% and c2 41.2%. Comparing the NAFLD group with the healthy controls, cl was decreased and c2 increased, significantly (P = 0.004). Comparing the NAFLD group with the alcoholic liver disease group, the frequency of the c2 allele gene was not signifi- cantly different (P = 0.896). In the NAFLD group the frequency of the c2 allele gene increased with the degree of pathogenesis of liver disease (P = 0.000). CONCLUSION: The genetic polymorphism of CYP2E1 at the Pst I and Rsa I sites is associated with susceptibility for NAFLD.
关 键 词:非酒精性脂肪性肝病 基因多态性 细胞色素P4502E1
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