Study of PNPLA3 Gene Variations in Adults with Metabolic Dysfunction-Associated Liver Disease in Overseas French Territories

What this Trial Is About

Metabolic Dysfunction Associated Liver Disease MASLD is a common condition linked to metabolic syndrome, with genetic factors like PNPLA3 variants thought to influence liver fat buildup and damage. This research aims to study these genetic variations among MASLD patients in the overseas territories population, primarily of African descent mixed with European and Indian heritage, to better understand their susceptibility to developing the more severe form, Metabolic Dysfunction Associated Steatohepatitis MASH. The study will analyze genetic samples from adult MASLD patients seen in hospital departments in Guadeloupe, French Guiana, and Runion Island. Researchers will examine PNPLA3 polymorphisms and assess clinical, imaging, and laboratory markers of MASLD severity at the time of inclusion. This observational study does not involve interventions but focuses on collecting biological samples and health data to explore genetic and clinical profiles. Participants will provide informed consent and undergo assessments including liver imaging and blood tests to evaluate disease stage and fibrosis. Researchers will track allele frequencies of PNPLA3 variants and the distribution of liver disease severity at baseline. The study will also monitor laboratory biomarkers linked to MASLD. The total participation timeline aligns with the inclusion visit, with data collection focused on initial evaluation and genetic analysis.

Study of PNPLA3 Genetic Polymorphisms in Patients With Non-Alcoholic Fatty Liver Disease in an Ultramarine Population (AdipoDROMExpo)