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).
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).
Patients under 18 years of age.
Patients unable to provide informed consent; so-called vulnerable populations (individuals under guardianship, judicial protection, etc.).
Prospective longitudinal multicentric study
Cohort
Prospective
Not listed
Allele frequencies of PNPLA3 variants
The primary outcome is the allele frequencies of PNPLA3 gene variants in patients with Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from the overseas population. Genotyping will be performed on DNA extracted from patient blood samples, and the frequency of each allele will be reported as the proportion of participants carrying the variant.
Distribution of MASLD Clinical Stages at Baseline
The distribution of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) clinical stages at baseline will be assessed by physician clinical evaluation. Participants will be classified into clinical categories including simple steatosis and non-alcoholic steatohepatitis (NASH). The outcome will be reported as the number and percentage of participants in each clinical stage.
Distribution of Liver Fibrosis Stages Assessed by Imaging at Baseline
Liver fibrosis stage will be assessed at baseline using imaging-based liver stiffness measurements (e.g., transient elastography, magnetic resonance elastography, or MRI-based techniques, as available at participating centers). Fibrosis stages will be categorized according to standard fibrosis stages (F0-F4). The outcome will be reported as the number and percentage of participants in each fibrosis stage.
Distribution of MASLD Severity Based on Laboratory Biomarkers at Baseline
MASLD severity will be assessed at baseline using laboratory biomarkers, including liver enzymes (e.g., ALT, AST) and metabolic parameters. Results will be categorized according to predefined clinical thresholds. The outcome will be reported as the number and percentage of participants within each severity category.
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Centre Hospitalier Universitaire de la Guadeloupe
Lead sponsor
Centre Hospitalier Universitaire de la Réunion
Collaborator
