Exploring the role of genetic variations in NAFLD: implications for disease pathogenesis and precision medicine approaches

• Published in: European journal of medical research 2024-03, Vol.29 (1), p.190-190, Article 190
• Main Authors: Mahmoudi, Seyedeh Kosar, Tarzemani, Shadi, Aghajanzadeh, Taha, Kasravi, Mohammadreza, Hatami, Behzad, Zali, Mohammad Reza, Baghaei, Kaveh
• Format: Article
• Language: English
• Subjects: Cardiovascular diseases; Dehydrogenases; Development and progression; Dextrose; Diabetes Mellitus, Type 2 - genetics; Disease susceptibility; Endoplasmic reticulum; Gene variants; Genes; Genetic aspects; Genetic polymorphisms; Genetic Variation; Genomes; Glucose; Glucose metabolism; Humans; Inflammation; Insulin; Insulin resistance; Lean NAFLD; Lipids; Liver; Liver cancer; Liver cirrhosis; Liver diseases; Metabolism; Mutation; NAFLD; NASH; Non-alcoholic Fatty Liver Disease - diagnosis; Non-alcoholic Fatty Liver Disease - genetics; Non-alcoholic Fatty Liver Disease - therapy; Oxidative stress; Pathogenesis; Physiological aspects; Polymorphism; Precision Medicine; Proteins; Review; Risk factors; Triglycerides; Type 2 diabetes; White people
• ISSN: 2047-783X; 0949-2321; 2047-783X
• DOI: 10.1186/s40001-024-01708-8

Non-alcoholic fatty liver disease (NAFLD) is one of the leading causes of chronic liver diseases, affecting more than one-quarter of people worldwide. Hepatic steatosis can progress to more severe forms of NAFLD, including NASH and cirrhosis. It also may develop secondary diseases such as diabetes and cardiovascular disease. Genetic and environmental factors regulate NAFLD incidence and progression, making it a complex disease. The contribution of various environmental risk factors, such as type 2 diabetes, obesity, hyperlipidemia, diet, and sedentary lifestyle, to the exacerbation of liver injury is highly understood. Nevertheless, the underlying mechanisms of genetic variations in the NAFLD occurrence or its deterioration still need to be clarified. Hence, understanding the genetic susceptibility to NAFLD is essential for controlling the course of the disease. The current review discusses genetics' role in the pathological pathways of NAFLD, including lipid and glucose metabolism, insulin resistance, cellular stresses, and immune responses. Additionally, it explains the role of the genetic components in the induction and progression of NAFLD in lean individuals. Finally, it highlights the utility of genetic knowledge in precision medicine for the early diagnosis and treatment of NAFLD patients.