【摘要】目的 探讨PNPLA3、Sort1基因多态性与酒精性肝病易感性的关系。方法 选取2017年1月至2018年3月在我院治疗的酒精性肝病患者110例（病例组），同时选取长期大量饮酒但未被诊断酒精性肝病患者100（无肝病嗜酒组）、健康自愿者200例（对照组），检测各组PNPLA3、Sort1基因多态性。结果 PNPLA3基因rs738409位点检测出CC、CG、GG三种基因型，Sort1基因rs646776位点检测出CC、TC、TT三种基因型；病例组PNPLA3基因GG型和等位基因G的比例分布为23.64%和45.45%，明显高于无肝病嗜酒组和对照组（p＜0.05）；各组Sort1基因多态性分布差异比较无统计学意义（p＞0.05）；病例组不同PNPLA3基因型患者TG、TC、HDL-C和LDL-C比较差异无统计学意义（p＞0.05）；病例组Sort1基因TT型患者TG为（1.61±0.30）mmol/L，高于CC+CT型患者，而HDL-C为（1.80±0.65）mmol/L，低于CC+CT型患者（p＜0.05）。结论 PNPLA3基因多态性与酒精性肝病易感性有一定关系，Sort1基因多态性与酒精性肝病易感性无明显关系，但与患者的血脂水平具有一定的相关性。
【关键词】 PNPLA3基因；Sort1基因；基因多态性；酒精性肝病；遗传易感性
Association of PNPLA3 and Sort1 gene polymorphisms with susceptibility to alcoholic liver disease
Lixiaofei，zhangliping，guoyongsheng
1. Department of Infectious,Jiaozuo Third People's Hospital, Jiaozuo, Henan 454000;
2.Operation room, Jiaozuo People's Hospital, Jiaozuo, Henan, 454000
3.Jiaozuo Shanyang District CDC, Henan Jiaozuo, 454000
[Abstract]Objective: To investigate the association between PNPLA3 and Sort1 gene polymorphisms and susceptibility to alcoholic liver disease.Methods: 110 cases of alcoholic liver disease (case group) were selected from January 2017 to March 2018 in our hospital, 100 cases without alcoholic liver disease who had been drinking heavily for a long time (without liver disease alcoholism group) and 200 healthy volunteers (control group) were selected, PNPLA3 and Sort1 gene polymorphisms were detected in each group.Results:PNPLA3 gene rs738409 loci detected three genotypes of CC, CG and GG. Sort1 gene rs646776 loci detected three genotypes of CC, TC and TT; The proportions of PNPLA3 genotype GG and allele G in case group were 23.64% and 45.45%, which were significantly higher than those without liver disease alcoholism group and control group (P < 0.05); There was no significant difference in the distribution of Sort1 gene polymorphisms among each groups (P > 0.05); There were no significant difference in TG, TC, HDL-C and LDL-C in patients with different PNPLA3 genotypes (P > 0.05); The TG of Sort1 gene TT in case group was (1.61±0.30) mmol/L, higher than that of type CC+CT, and HDL-C was (1.80±0.65) mmol/L, lower than that of CC+CT type (P < 0.05).Conclusion:The polymorphism of PNPLA3 gene is related to the susceptibility of alcoholic liver disease, the polymorphism of Sort1 gene is not related to the susceptibility of alcoholic liver disease, but it may be related to the level of blood lipid in patients.
[Keywords] PNPLA3 gene; Sort1 gene; gene polymorphism; alcoholic liver disease; genetic susceptibility
酒精性肝病属于临床常见的肝脏疾病，主要是长期大量饮酒引发，近年来酒精性肝病的发病率呈现升高的趋势，对患者的生理和心理产生严重的影响，目前临床按照患者病情与病程将酒精性肝病分为酒精性脂肪肝、酒精性肝炎、酒精性肝纤维化与酒精性肝硬化，有学者认为本病的发生同肝脏脂肪代谢存在关系，目前对疾病发生机制方面研究较多[1]。有学者报道乙醇在摄入人体内90%以上通过肝脏进行代谢，而酒精代谢过程在不同人群中会表现出个体化的差异性，基因多态性的研究在临床越来越广泛，有研究发现patatin样磷脂酶3(patatin likephospholipase domain containing 3，PNPLA3)基因的非同义序列变异在人体肝脏脂肪变性中发挥了重要作用，该基因编码的一种跨膜蛋白被证明在肝细胞膜中显著表达；Sort1则是脂质代谢调节基因，由Sort1编码分拣蛋白是载脂蛋白B100的受体，主要定位在高尔基体的细胞内蛋白，同人体的脂质代谢调节关系密切[2]。本研究通过观察PNPLA3、Sort1基因多态性同酒精性肝病易感性之间的关系，为临床寻找酒精性肝病发生的风险因素，以期为临床提供指导和依据，现汇报如下。
1资料与方法
1.1一般资料
选取2017年1月至2018年3月在我院治疗的酒精性肝病患者110例（病例组），同时选取长期大量饮酒但未被诊断酒精性肝病患者100（无肝病嗜酒组）、健康自愿者200例（对照组），纳入标准：（1）诊断符合《酒精性肝病诊疗指南》中的标准；（2）病例组和无肝病嗜酒组饮酒嗜酒≥5年，乙醇量：男性≥40g/d，女性≥20g/d；（3）对照组受试者不饮酒；（4）所有受试者知情同意。排除标准：（1）合并有HAV、HBV等肝炎病毒感染、药物性肝病、恶性肿瘤、自身免疫性疾病等；（2）已行肝移植手术者。各组受试者一般资料比较差异无统计学意义（p＞0.05），见表1。
表1 各组一般资料比较
组别 | 例数 | 男/女 | 年龄（岁） | 乙醇量（g/d） | 饮酒时间（年） |
对照组 | 
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