Study of PNPLA3 Genetic Polymorphisms in Patients With Non-Alcoholic Fatty Liver Disease in an Ultramarine Population
Metabolic Dysfunction Associated Liver Disease (MASLD) is associated with metabolic syndrome, and PNPLA3 variants are known to be implicated in intrahepatic lipid accumulation and linked to lipotoxicity. Analysis of PNPLA3 polymorphisms in an overseas territories population of MASLD would be interesting to describe their profile susceptibility to develop Metabolic dysfunction associated steatohepatitis (MASH).
• Adult patients (≥18 years old) seen in consultation or hospitalized in the Hepato-Gastroenterology Departments of the University Hospitals of Guadeloupe, French Guiana, and Réunion Island, with a diagnosis of MASLD.
‣ MASLD is defined as evidence of hepatic steatosis associated with overweight/obesity, type 2 diabetes, or metabolic syndrome according to ATP III (2005) criteria.
⁃ Patients affiliated with, or beneficiaries of, a social security scheme.
⁃ Free, informed, and written consent obtained from the participant and signed by both the participant and the investigator (no later than the day of inclusion and prior to any procedure required by the study).