Background and objectivesFamilial 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.
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Kasianthan et al. (2024) studied this question.
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