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本文引用的文献

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Genetic and Epigenetic Modifiers of Alcoholic Liver Disease.酒精性肝病的遗传和表观遗传修饰物。
Int J Mol Sci. 2018 Dec 3;19(12):3857. doi: 10.3390/ijms19123857.
2
The genetic backgrounds in nonalcoholic fatty liver disease.非酒精性脂肪性肝病中的遗传背景。
Clin J Gastroenterol. 2018 Apr;11(2):97-102. doi: 10.1007/s12328-018-0841-9. Epub 2018 Feb 28.
3
Additive effects of PNPLA3 and TM6SF2 on the histological severity of non-alcoholic fatty liver disease.载脂蛋白基因 PNPLA3 和 TM6SF2 对非酒精性脂肪性肝病组织学严重程度的影响。
J Gastroenterol Hepatol. 2018 Jun;33(6):1277-1285. doi: 10.1111/jgh.14056. Epub 2018 Feb 26.
4
Global, regional, and national disability-adjusted life-years (DALYs) for 333 diseases and injuries and healthy life expectancy (HALE) for 195 countries and territories, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.全球、地区和国家残疾调整生命年(DALYs)用于 333 种疾病和伤害以及 195 个国家和地区的健康期望寿命(HALE),1990-2016 年:全球疾病负担研究 2016 年的系统分析。
Lancet. 2017 Sep 16;390(10100):1260-1344. doi: 10.1016/S0140-6736(17)32130-X.
5
Global, regional, and national age-sex specific mortality for 264 causes of death, 1980-2016: a systematic analysis for the Global Burden of Disease Study 2016.全球、地区和国家按年龄、性别划分的 264 种死因的死亡率:2016 年全球疾病负担研究的系统分析。
Lancet. 2017 Sep 16;390(10100):1151-1210. doi: 10.1016/S0140-6736(17)32152-9.
6
Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.酒精依赖的遗传因素:对德国酒精依赖、慢性酒精性胰腺炎和酒精相关性肝硬化患者的异质性样本的调查。
Genes (Basel). 2017 Jul 17;8(7):183. doi: 10.3390/genes8070183.
7
PNPLA3 and RNF7 Gene Variants are Associated with the Risk of Developing Liver Fibrosis and Cirrhosis in an Eastern European Population.PNPLA3和RNF7基因变异与东欧人群发生肝纤维化和肝硬化的风险相关。
J Gastrointestin Liver Dis. 2017 Mar;26(1):37-43. doi: 10.15403/jgld.2014.1121.261.pnp.
8
Combined effects of the PNPLA3 rs738409, TM6SF2 rs58542926, and MBOAT7 rs641738 variants on NAFLD severity: a multicenter biopsy-based study.PNPLA3基因rs738409、TM6SF2基因rs58542926和MBOAT7基因rs641738变异对非酒精性脂肪性肝病严重程度的联合影响:一项基于多中心活检的研究。
J Lipid Res. 2017 Jan;58(1):247-255. doi: 10.1194/jlr.P067454. Epub 2016 Nov 11.
9
MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C.MBOAT7 rs641738 增加慢性丙型肝炎肝炎症和向纤维化转变的风险。
Nat Commun. 2016 Sep 15;7:12757. doi: 10.1038/ncomms12757.
10
The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent.MBOAT7-TMC4基因变异rs641738增加欧洲裔个体患非酒精性脂肪性肝病的风险。
Gastroenterology. 2016 May;150(5):1219-1230.e6. doi: 10.1053/j.gastro.2016.01.032. Epub 2016 Feb 2.

以及肝纤维化和肝硬化中的基因变异。

and Gene Variants in Liver Fibrosis and Cirrhosis.

机构信息

Department of Gastroenterology, Lithuanian University of Health Sciences, LT-50009 Kaunas, Lithuania.

Institute for Digestive Research, Lithuanian University of Health Sciences, LT-50009 Kaunas, Lithuania.

出版信息

Int J Mol Sci. 2019 Mar 14;20(6):1277. doi: 10.3390/ijms20061277.

DOI:10.3390/ijms20061277
PMID:30875804
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6470827/
Abstract

Previous large-scale genetic studies identified single nucleotide polymorphisms (SNPs) of the and genes as risk factors for alcoholic liver cirrhosis and non-alcoholic fatty liver disease. In this study, we tried to evaluate the association between variant and variant and the risk of hepatic fibrosis or liver cirrhosis of different etiology. In parallel, we also aimed to evaluate whether these two SNPs modify the effects of the risk variant for the development of hepatic fibrosis and liver cirrhosis. The study was conducted at the Department of Gastroenterology, Lithuanian University of Health Sciences Hospital, and included 334 patients with liver cirrhosis, 128 patients with liver fibrosis, and 550 controls. SNPs were genotyped by quantitative PCR, using TaqMan allelic discrimination assays. Overall, as well as were not linked to hepatic fibrosis, alcohol or hepatitis C virus induced liver cirrhosis in an Eastern European population. These genetic variations also did not mediate the effect of SNP for liver developing liver fibrosis or liver cirrhosis.

摘要

先前的大规模遗传研究确定了 和 基因的单核苷酸多态性 (SNPs) 是酒精性肝硬化和非酒精性脂肪性肝病的风险因素。在这项研究中,我们试图评估 变体和 变体与不同病因的肝纤维化或肝硬化风险之间的关联。同时,我们还旨在评估这两个 SNPs 是否会改变 风险变异对肝纤维化和肝硬化发展的影响。该研究在立陶宛健康科学大学医院的胃肠病学系进行,共纳入 334 例肝硬化患者、128 例肝纤维化患者和 550 名对照。通过定量 PCR 使用 TaqMan 等位基因区分测定法对 SNPs 进行基因分型。总的来说,在东欧人群中, 以及 与肝纤维化、酒精或丙型肝炎病毒引起的肝硬化无关。这些遗传变异也不会介导 SNP 对肝脏发生肝纤维化或肝硬化的影响。