Familial hypercholesterolemia (FH) is characterized by an elevated level (>155 mg/dL) of LDL (low-density lipoprotein)-Cholesterol in the blood circulation and is one of the major causes of premature atherosclerotic cardiovascular diseases. The significant genes responsible for this lipid deposition are LDL-Receptor ( LDLR ), Apolipoprotein B-100 ( APOB ), and proprotein convertase subtilisin/kexin type 9 genes ( PCSK9 ). Other than these 3 genes, 64 gene loci have been identified as polygenic causes. The aim of the study is to analyze the other genes involved in this condition. This can be obtained using differential expression analysis of the already existing FH mRNA expression dataset.
In this study, three datasets representing the markers of monocyte, T lymphocyte, and iPSC in atherosclerosis and FH were selected from the pool of hypercholesterolemia datasets, and differential expression analysis was done using networkanalyst.ca.
The monocyte and t-lymphocytes datasets each had 743 differentially expressed genes (DEGs), while the iPSCs dataset contained 691 DEGs. RPS7, AKRIC3, PL9 , and OSM are among the genes that are expressed in the majority of Gene ontology annotations.
The present investigation has identified genes that exhibit differential expression in individuals diagnosed with FH and are associated with the development of atherosclerosis compared to healthy individuals. The empirical data demonstrates a significant correlation between the three genes, KLRF1, Xk and LY96 , as well as the FH genes. The genes exhibiting an elevated expression level are RPS7, AKRIC3, PL9 , and OSM . These genes are of utmost importance in ribosomal transcription and the monitoring of transcription and immune responses. To enhance our comprehension of this phenomenon, the analysis of the roles of these genes in FH with atherosclerosis is necessary. The present study also establishes a foundation for investigating potential therapeutic targets that could alleviate the impact of CVD in individuals diagnosed with FH.
https://www.xiahepublishing.com/1555-3884/GE-2023-00184
The study was recently published in the Gene Expression .
Gene Expression (GE) is an open-access journal. It was launched in 1991 by Chicago Medical School Press, and transferred to Cognizant Communication Corporation in 1994. From August 2022, GE is published by Xia & He Publishing Inc.
GE publishes peer-reviewed and high-quality original articles, reviews, editorials, commentaries, and opinions on its primary research topics including cell biology, molecular biology, genes, and genetics, especially on the cellular and molecular mechanisms of human diseases.
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Gene Expression
Gene Expression Analysis Reveals Clinically Significant Genes Associated with Familial Hypercholesterolemia and Atherosclerosis
15-May-2024