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J Lipid Res. 2017 Jan;58(1):247-255. doi: 10.1194/jlr.P067454. Epub 2016 Nov 11.
2
Increased parenchymal damage and steatohepatitis in Caucasian non-alcoholic fatty liver disease patients with common IL1B and IL6 polymorphisms.携带常见白细胞介素1β(IL1B)和白细胞介素6(IL6)基因多态性的白种人非酒精性脂肪性肝病患者的实质损伤和脂肪性肝炎加重
Aliment Pharmacol Ther. 2016 Dec;44(11-12):1253-1264. doi: 10.1111/apt.13824. Epub 2016 Oct 11.
3
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Pediatr Res. 2016 Nov;80(5):651-655. doi: 10.1038/pr.2016.139. Epub 2016 Jul 13.
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Association between adiponectin gene T45G polymorphism and nonalcoholic fatty liver disease risk: a meta-analysis.脂联素基因T45G多态性与非酒精性脂肪性肝病风险的关联:一项荟萃分析。
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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.
6
The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage.rs2294918 E434K 变体调节脂肪酶结构域包含蛋白 3 的表达并导致肝损伤。
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A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.一项全基因组关联研究证实了 PNPLA3 基因,并确定了 TM6SF2 和 MBOAT7 基因是与酒精性肝硬化相关的风险基因。
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MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study.MTTP-297H 多态性降低血清胆固醇但增加非酒精性脂肪性肝病风险:一项横断面研究。
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10
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儿童非酒精性脂肪性肝病与常见基因变异之间的关联

The Association between Pediatric NAFLD and Common Genetic Variants.

作者信息

Umano Giuseppina Rosaria, Martino Mariangela, Santoro Nicola

机构信息

Department of Pediatrics, Yale University, 06520, New Haven, CT, USA.

Dipartimento della Donna, del Bambino, di Vhirurgia Generale e Specialistica, Universita' della Campania Luigi Vanvitelli, 80138, Napoli, Italy.

出版信息

Children (Basel). 2017 Jun 18;4(6):49. doi: 10.3390/children4060049.

DOI:10.3390/children4060049
PMID:28629152
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5483624/
Abstract

Non-alcoholic fatty liver disease (NAFLD) is one of the most common complications of obesity. Several studies have shown that genetic predisposition probably plays an important role in its pathogenesis. In fact, in the last few years a large number of genetic studies have provided compelling evidence that some gene variants, especially those in genes encoding proteins regulating lipid metabolism, are associated with intra-hepatic fat accumulation. Here we provide a comprehensive review of the gene variants that have affected the natural history of the disease.

摘要

非酒精性脂肪性肝病(NAFLD)是肥胖最常见的并发症之一。多项研究表明,遗传易感性可能在其发病机制中起重要作用。事实上,在过去几年中,大量的基因研究提供了令人信服的证据,表明一些基因变异,尤其是那些编码调节脂质代谢蛋白质的基因变异,与肝内脂肪堆积有关。在此,我们对影响该疾病自然史的基因变异进行全面综述。