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

Summary

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).

Eligibility

IInclusion Criteria

-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).

Exclusion Criteria:

* Patients under 18 years of age.
* Patients unable to provide informed consent; so-called vulnerable populations (individuals under guardianship, judicial protection, etc.).
* Presence of another cause of chronic liver disease, including:

Viral hepatitis (B, C, or E)

Primary biliary cholangitis or primary sclerosing cholangitis

Autoimmune hepatitis

Wilson's disease

Hemochromatosis

Alpha-1 antitrypsin deficiency

Alcoholic liver disease, or daily alcohol consumption \>30 g/day for men or \>20 g/day for women

-Pregnant women.

Conditions2

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