Clinical and Molecular Hepatology. Centro de Altos Estudios en Ciencias Humanas y de la Salud (CAECIHS), Universidad Abierta Interamericana, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
Systems Biology of Complex Diseases, Centro de Altos Estudios en Ciencias Humanas y de la Salud (CAECIHS), Universidad Abierta Interamericana, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
Clin Mol Hepatol. 2023 Feb;29(Suppl):S184-S195. doi: 10.3350/cmh.2022.0318. Epub 2022 Dec 5.
The knowledge on the genetic component of non-alcoholic fatty liver disease (NAFLD) has grown exponentially over the last 10 to 15 years. This review summarizes the current evidence and the latest developments in the genetics of NAFLD and non-alcoholic steatohepatitis (NASH) from the immune system's perspective. Activation of innate and or adaptive immune response is an essential driver of NAFLD disease severity and progression. Lipid and immune pathways are crucial in the pathophysiology of NAFLD and NASH. Here, we highlight novel applications of genomic techniques, including single-cell sequencing and the genetics of gene expression, to elucidate the potential involvement of NAFLD/NASH-risk alleles in modulating immune system cells. Together, our focus is to provide an overview of the potential involvement of the NAFLD/NASH-related risk variants in mediating the immune-driven liver disease severity and diverse systemic pleiotropic effects.
过去 10 到 15 年，非酒精性脂肪性肝病 (NAFLD) 的遗传成分知识呈指数级增长。从免疫系统的角度来看，本篇综述总结了目前关于 NAFLD 和非酒精性脂肪性肝炎 (NASH) 的遗传学的最新证据和最新进展。先天和/或适应性免疫反应的激活是非酒精性脂肪性肝病严重程度和进展的重要驱动因素。脂质和免疫途径在 NAFLD 和 NASH 的病理生理学中至关重要。在这里，我们强调了基因组技术的新应用，包括单细胞测序和基因表达的遗传学，以阐明 NAFLD/NASH 风险等位基因在调节免疫系统细胞中的潜在作用。总之，我们的重点是概述 NAFLD/NASH 相关风险变异在介导免疫驱动的肝病严重程度和多种系统多效性方面的潜在作用。
