Fecal Microbiota Analysis of PNPLA3 Polymorphism in Hispanic Patients With MASLD

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.

Eligibility

Inclusion Criteria:

A subject must meet the following criteria to be eligible for inclusion in the study:

Patient must be of Hispanic ethnicity residing in Puerto Rico. Age 21 to 75 years old at time of informed consent. Evidence of MASLD by vibration-controlled transient elastography (FibroScan) controlled attenuation parameter (CAP) (value must be greater than or equal to 248 dB/m).

Willing and able to provide informed consent signed by study subject. Willing and able to understand and complete study-related procedures.

Exclusion Criteria:

A subject who meets any of the following criteria will be excluded from the study:

Excessive alcohol intake for ≥3 months during past year prior to screening (\>3 units/day for males and \>2 units/day for female is generally considered excessive).

History of liver transplant, or current placement on a liver transplant list. History of viral and resolved hepatitis (Hepatitis B or C) or human immunodeficiency virus (HIV).

Use of antibiotics within 14 days of screening.

Conditions2

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