Clinical Research Directory

Fecal Microbiota Analysis of PNPLA3 Polymorphism in Hispanic Patients With MASLD

Sponsor: Fundacion de Investigacion Science and Education

Summary

Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) is the most common cause of liver disease worldwide. The condition is defined by fat accumulation exceeding 5% of liver weight not explained by at-risk alcohol intake. Risk factors include obesity, diabetes, genetic variants, dietary factors, and gut microbiota alterations. However, the interdependence of these factors and their individual impact on disease severity remain unclear. The investigators aim to investigate the changes in the gut microbiome of Hispanics living in Puerto Rico with MASLD associated with wild-type and mutated genotype status of PNPLA3 rs738409, a strong genetic contributor to MASLD. In this cross-sectional study, blood and fecal samples will be collected from participants who have completed a non-invasive transient elastography test (FibroScan) to measure the extent of hepatic steatosis (fat in the liver). Genotyping for the PNPLA3 rs738409 variant will be conducted. Fecal samples will be collected to analyze the V4 region of the 16S rRNA gene for intestinal microbiota characterization. Alpha and beta diversity analysis will be measured by MASLD status and PNPLA3 genotype to evaluate biodiversity within and between samples.

Official title: Fecal Microbiota Analysis of PNPLA3 Polymorphism in Hispanic Patients With Metabolic Dysfunction Associated Steatotic Liver Disease

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