Journal of Translational Genetics and Genomics, Journal Year: 2024, Volume and Issue: 8(4), P. 355 - 77
Published: Dec. 7, 2024
Steatotic liver disease (SLD), particularly metabolic dysfunction-associated SLD, represents a significant public health concern worldwide. Among the various factors implicated in development and progression of this condition, patatin-like phospholipase domain-containing protein 3 (PNPLA3 ) gene has emerged as critical player. Variants PNPLA3 are associated with altered lipid metabolism, leading to increased hepatic fat accumulation subsequent inflammation fibrosis. Understanding role not only enhances our comprehension pathomechanisms driving SLD but also informs potential therapeutic strategies. The molecular mechanisms through which variants contribute dysregulation hepatocyte injury critically discussed present review article. We extensively analyze clinical cohorts population-based studies underpinning association between polymorphisms risk developing its liver-related protean extrahepatic outcomes, concert other modifiers, notably including age, sex, ethnicity adults children. discuss increasingly recognized played by transplantation, autoimmune hepatitis, acquired immunodeficiency syndrome. Finally, we examine implications diagnostics regarding stratification targeted therapies for patients affected context precision medicine approaches.
Language: Английский