酒精性肝硬化患者血CTLA-4和PNPLA3基因多态性及其临床意义分析*

doi:10.3969/j.issn.1672-5069.2020.01.024

摘要/Abstract

摘要： 目的探讨细胞毒性T淋巴细胞相关抗原4(CTLA-4)和Patatin样磷脂酶3(PNPLA3)基因多态性与酒精性肝硬化发病的关系。方法 2017年1月～2019年1月我院治疗的酒精性肝硬化患者110例和同期健康人100例,采用聚合酶链反应-限制性片段长度多态性检测血CTLA-4基因rs4675369位点和PNPLA3基因rs738409位点多态性。结果肝硬化患者CTLA-4基因rs4675369位点为AA型、AG型和GG型比率分别为26.4%、49.1%和24.6%,与健康人的26.0%、50.0%和24.0%比,无显著性差异(P>0.05),等位基因A和G比率分别为50.9%和49.1%,与健康人的51.0%和49.0%比,也无显著性差异(P>0.05);肝硬化患者PNPLA3基因rs738409位点GG基因型和等位基因G比率分别为17.2%和38.2%,显著高于健康人的4.0%和24.0%(P<0.05);血CTLA-4基因rs4675369位点AA型、AG型和GG型和PNPLA3基因rs738409位点CC型、CG型和GG型肝硬化患者血清丙氨酸氨基转移酶、天门冬氨酸氨基转移酶、谷氨酰转肽酶和碱性磷酸酶水平之间比,差异均无统计学意义(P>0.05)。结论本研究结果未提示CTLA-4基因多态性与酒精性肝硬化发病存在相关关系,而PNPLA3基因多态性与酒精性肝硬化发病的关系也需要进一步研究明确。

关键词: 酒精性肝硬化, 细胞毒性T淋巴细胞相关抗原4, Patatin样磷脂酶3, 基因多态性

Abstract: Objective The aim of this study was to investigate the correlation of polymorphisms of cytotoxic T lymphocyte associated antigen-4 (CTLA-4) and patatin-like phospholipase domain containing 3(PNPLA3) genes to the pathogenesis of alcoholic liver cirrhosis (ALC). Methods 110 patients with ALC and 100 healthy persons were recruited in our hospital between January 2017 and January 2019. The blood polymorphisms of CTLA-4 gene rs4675369 and PNPLA3 gene rs738409 were detected by polymerase chain reaction-restriction fragment length polymorphism. Results The percentages of CTLA-4 gene rs4675369 locus type AA, type AG and type GG in patients with ALC were 26.4%, 49.1% and 24.6%, not significantly different compared to 26.0%, 50.0% and 24.0% in healthy persons (P>0.05), and the percentages of A allele and G allele of CTLA-4 gene were 50.9% and 49.1%, without significant differences compared to 51.0% and 49.0% in healthy persons (P>0.05); the percentages of PNPLA3 gene rs738409 locus genotype GG and allele G in patients with ALC were 17.2% and 38.2%, significantly higher than 4.0% and 24.0%, respectively, in healthy persons (P<0.05); serum ALT, AST, GGT and ALP levels in ALC patients with CTLA-4 gene rs4675369 locus genotype AA,AG and GG or PNPLA3 gene rs738409 locus genotype CC, CG ad GG were not significantly different (P>0.05). Conclusions Ourstudy shows CTLA-4 gene polymorphism has nothing to do with the pathogenesis of alcoholic liver cirrhosis, and what roles of PNPLA3 gene play needs future further investigations.

Key words: Alcoholic liver cirrhosis, Cytotoxic T lymphocyte associated antigen-4, Patatin-like phospholipase domain containing 3, Gene polymorphism

张冰, 解学军. 酒精性肝硬化患者血CTLA-4和PNPLA3基因多态性及其临床意义分析^*[J]. 实用肝脏病杂志, 2020, 23(1): 86-89.

Zhang Bing, Xie Xuejun. Correlation of polymorphisms of CTLA-4 and PNPLA3 genes tothe pathogenesis of alcoholic cirrhosis in human[J]. Journal of Practical Hepatology, 2020, 23(1): 86-89.

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酒精性肝硬化患者血CTLA-4和PNPLA3基因多态性及其临床意义分析^*

Correlation of polymorphisms of CTLA-4 and PNPLA3 genes tothe pathogenesis of alcoholic cirrhosis in human

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