Related Experiment Video
Updated: Jul 9, 2025
Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
Published on: March 1, 2024
Transcriptomics of MASLD Pathobiology in African American Patients in the Washington DC Area †
Tanmoy Mondal1, Coleman I Smith2, Christopher A Loffredo3
1Department of Biology, Howard University, Washington, DC 20059, USA.
Abstract:
Metabolic-dysfunction-associated steatotic liver disease (MASLD) is becoming the most common chronic liver disease worldwide and is of concern among African Americans (AA) in the United States. This pilot study evaluated the differential gene expressions and identified the signature genes in the disease pathways of AA individuals with MASLD. Blood samples were obtained from MASLD patients (n = 23) and non-MASLD controls (n = 24) along with their sociodemographic and medical details. Whole-blood transcriptomic analysis was carried out using Affymetrix Clarion-S Assay. A validation study was performed utilizing TaqMan Arrays coupled with Ingenuity Pathway Analysis (IPA) to identify the major disease pathways. Out of 21,448 genes in total, 535 genes (2.5%) were significantly (p < 0.05) and differentially expressed when we compared the cases and controls. A significant overlap in the predominant differentially expressed genes and pathways identified in previous studies using hepatic tissue was observed. Of note, TGFB1 and E2F1 genes were upregulated, and HMBS was downregulated significantly. Hepatic fibrosis signaling is the top canonical pathway, and its corresponding biofunction contributes to the development of hepatocellular carcinoma. The findings address the knowledge gaps regarding how signature genes and functional pathways can be detected in blood samples ('liquid biopsy') in AA MASLD patients, demonstrating the potential of the blood samples as an alternative non-invasive source of material for future studies.
Insights
This study identified key genes and pathways in African Americans with metabolic-dysfunction-associated steatotic liver disease (MASLD) using blood samples. Findings show potential for non-invasive liquid biopsies in MASLD research.
Area of Science:
- Genomics
- Hepatology
- Precision Medicine
Background:
- Metabolic-dysfunction-associated steatotic liver disease (MASLD) is a growing global health concern, particularly prevalent in African Americans (AA).
- Understanding MASLD's genetic underpinnings in diverse populations like AA is crucial for targeted interventions.
- Previous research often relied on liver tissue, necessitating exploration of non-invasive biomarkers.
Purpose of the Study:
- To investigate differential gene expression in AA individuals with MASLD.
- To identify signature genes and key biological pathways associated with MASLD in this demographic.
- To assess the feasibility of using blood samples as a 'liquid biopsy' for MASLD research.
Main Methods:
- Whole-blood transcriptomic analysis was performed on MASLD patients (n=23) and controls (n=24).
- Differential gene expression analysis identified significant gene changes (p < 0.05).
- TaqMan Arrays and Ingenuity Pathway Analysis (IPA) validated key pathways, including hepatic fibrosis signaling.
Main Results:
- 535 out of 21,448 genes (2.5%) were significantly differentially expressed between MASLD cases and controls.
- Upregulation of TGFB1 and E2F1, and downregulation of HMBS were observed.
- Hepatic fibrosis signaling emerged as a top pathway, linked to hepatocellular carcinoma development.
Conclusions:
- Blood-based gene expression analysis can reveal MASLD-associated molecular signatures in African Americans.
- The study highlights the potential of 'liquid biopsy' for non-invasive MASLD diagnosis and research.
- Findings contribute to understanding MASLD pathogenesis and may inform future therapeutic strategies for at-risk populations.
