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Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
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Updated: Sep 4, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Identifying significant genes and functionally enriched pathways in familial hypercholesterolemia using integrated

Zuhier Awan1,2, Nuha Alrayes3,4, Zeenath Khan5

  • 1Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Saudi Journal of Biological Sciences
|July 18, 2022
PubMed
Summary

Familial hypercholesterolemia (FH) involves genetic biomarkers affecting lipid homeostasis and immune responses. Key genes like JAK3, PLCG2, and ZEB2 are linked to inflammation and cardiovascular risks in FH patients.

Keywords:
DEGsFamilial hypercholesterolemiaGene expressionMicroarrayNetworkPPI

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Area of Science:

  • Genomics
  • Molecular Biology
  • Computational Biology

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol, leading to atherosclerosis and cardiovascular diseases.
  • Limited published data necessitates identifying genetic biomarkers for FH through gene expression profiling.

Purpose of the Study:

  • To identify potential genetic biomarkers for Familial hypercholesterolemia (FH) using global gene expression profiling.
  • To understand the role of immune dysregulation in atherosclerosis among FH patients.

Main Methods:

  • Microarray analysis of gene expression data from FH patients and controls.
  • Computational biology methods including differential expression analysis, protein network mapping, and hub gene identification.
  • Functional enrichment analysis (Gene Ontology) and immune cell restriction analysis.

Main Results:

  • Dysregulated expression of 115 genes related to lipid homeostasis, immune responses, Wnt signaling, and mucin O-glycan biosynthesis identified in FH patients.
  • Thyroid hormone and ErbB signaling pathways implicated in FH.
  • JAK3, PLCG2, and ZEB2 identified as key hub genes associated with inflammation, cardiovascular, and immune phenotypes.
  • These genes are highly expressed in specific immune cells like T-follicular helper CD4+ T cells, B cells, and monocytes.

Conclusions:

  • The study provides a theoretical basis for understanding immune dysregulation in FH-related atherosclerosis.
  • Identified genetic biomarkers may facilitate the development of genomic medicine for cardiovascular diseases.