Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Neuroendocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Hepatol Commun. 2022 Jan;6(1):77-89. doi: 10.1002/hep4.1789. Epub 2021 Aug 11.
Approaches to manage nonalcoholic fatty liver disease (NAFLD) are limited by an incomplete understanding of disease pathogenesis. The aim of this study was to identify hepatic gene-expression patterns associated with different patterns of liver injury in a high-risk cohort of adults with obesity. Using the NanoString Technologies (Seattle, WA) nCounter assay, we quantified expression of 795 genes, hypothesized to be involved in hepatic fibrosis, inflammation, and steatosis, in liver tissue from 318 adults with obesity. Liver specimens were categorized into four distinct NAFLD phenotypes: normal liver histology (NLH), steatosis only (steatosis), nonalcoholic steatohepatitis without fibrosis (NASH F0), and NASH with fibrosis stage 1-4 (NASH F1-F4). One hundred twenty-five genes were significantly increasing or decreasing as NAFLD pathology progressed. Compared with NLH, NASH F0 was characterized by increased inflammatory gene expression, such as gamma-interferon-inducible lysosomal thiol reductase (IFI30) and chemokine (C-X-C motif) ligand 9 (CXCL9), while complement and coagulation related genes, such as C9 and complement component 4 binding protein beta (C4BPB), were reduced. In the presence of NASH F1-F4, extracellular matrix degrading proteinases and profibrotic/scar deposition genes, such as collagens and transforming growth factor beta 1 (TGFB1), were simultaneously increased, suggesting a dynamic state of tissue remodeling. Conclusion: In adults with obesity, distinct states of NAFLD are associated with intrahepatic perturbations in genes related to inflammation, complement and coagulation pathways, and tissue remodeling. These data provide insights into the dynamic pathogenesis of NAFLD in high-risk individuals.
处理非酒精性脂肪性肝病 (NAFLD) 的方法受到对疾病发病机制认识不完整的限制。本研究旨在确定与肥胖高危人群中不同肝损伤模式相关的肝基因表达模式。我们使用 NanoString 技术 (西雅图,华盛顿州) nCounter 测定法,定量测定了 318 名肥胖成年人肝脏组织中 795 个基因的表达,这些基因被认为与肝纤维化、炎症和脂肪变性有关。肝标本分为四种不同的 NAFLD 表型:正常肝组织学 (NLH)、单纯脂肪变性 (脂肪变性)、无纤维化的非酒精性脂肪性肝炎 (NASH F0) 和纤维化 1-4 期的 NASH (NASH F1-F4)。随着 NAFLD 病理进展,有 125 个基因的表达呈显著增加或减少。与 NLH 相比,NASH F0 的特征是炎症基因表达增加,如γ干扰素诱导的溶酶体硫醇还原酶 (IFI30) 和趋化因子 (C-X-C 基序) 配体 9 (CXCL9),而补体和凝血相关基因,如 C9 和补体成分 4 结合蛋白β (C4BPB),则减少。在存在 NASH F1-F4 的情况下,细胞外基质降解蛋白酶和促纤维化/瘢痕沉积基因,如胶原蛋白和转化生长因子β 1 (TGFB1),同时增加,表明组织重塑的动态状态。结论:在肥胖成年人中,不同状态的 NAFLD 与与炎症、补体和凝血途径以及组织重塑相关的肝内基因的内在干扰有关。这些数据为高危人群中 NAFLD 的动态发病机制提供了新的见解。