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Gene expression profiling in elderly patients with familial hypercholesterolemia with and without coronary heart
Torunn Melnes1, Martin P Bogsrud2, Jacob J Christensen1
1Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Norway.
Insights
Elderly patients with familial hypercholesterolemia (FH) who avoid coronary heart disease (CHD) show distinct gene expression profiles. These findings suggest protective factors may exist, offering potential targets for future preventive therapies.
Area of Science:
- Genetics and Genomics
- Cardiovascular Disease Research
- Metabolic Disorders
Background:
- Elderly familial hypercholesterolemia (FH) patients face high coronary heart disease (CHD) risk.
- A subset of FH patients remains event-free, suggesting potential cardioprotective factors.
- Understanding these protective mechanisms is crucial for CHD prevention strategies.
Purpose of the Study:
- To investigate gene expression profiles in elderly, event-free FH patients.
- To identify potential cardioprotective gene expression patterns in FH.
- To compare gene expression between FH patients with and without CHD and healthy controls.
Main Methods:
- Analyzed expression of 773 genes using the Nanostring Metabolic Pathways Panel.
- Studied peripheral blood mononuclear cells (PBMCs) from FH patients (event-free and with CHD) and healthy controls.
- Utilized statistical analysis to identify differentially expressed genes (DEGs) between groups.
Main Results:
- No significant DEGs between FH groups after multiple testing adjustment.
- At nominal p < 0.05, 36 DEGs were found between FH groups, related to lipid metabolism and immune response.
- FH event-free group showed fewer DEGs compared to controls than the FH CHD group.
Conclusions:
- Elderly event-free FH patients exhibit a different PBMC gene expression profile compared to FH patients with CHD.
- Gene expression differences from controls were less pronounced in event-free FH individuals, suggesting a less atherogenic profile.
- Identification of cardioprotective factors could inform future therapeutic targets for CHD prevention.
Background And Aims:
Elderly familial hypercholesterolemia (FH) patients are at high risk of coronary heart disease (CHD) due to high cholesterol burden and late onset of effective cholesterol-lowering therapies. A subset of these individuals remains free from any CHD event, indicating the potential presence of protective factors. Identifying possible cardioprotective gene expression profiles could contribute to our understanding of CHD prevention and future preventive treatment. Therefore, this study aimed to investigate gene expression profiles in elderly event-free FH patients.
Methods:
Expression of 773 genes was analysed using the Nanostring Metabolic Pathways Panel, in peripheral blood mononuclear cells (PBMCs) from FH patients ≥65 years without CHD (FH event-free, n = 44) and with CHD (FH CHD, n = 39), and from healthy controls ≥70 years (n = 39).
Results:
None of the genes were differentially expressed between FH patients with and without CHD after adjusting for multiple testing. However, at nominal p < 0.05, we found 36 (5%) differentially expressed genes (DEGs) between the two FH groups, mainly related to lipid metabolism (e.g. higher expression of ABCA1 and ABCG1 in FH event-free) and immune responses (e.g. lower expression of STAT1 and STAT3 in FH event-free). When comparing FH patients to controls, the event-free group had fewer DEGs than the CHD group; 147 (19%) and 219 (28%) DEGs, respectively.
Conclusions:
Elderly event-free FH patients displayed a different PBMC gene expression profile compared to FH patients with CHD. Differences in gene expression compared to healthy controls were more pronounced in the CHD group, indicating a less atherogenic gene expression profile in event-free individuals. Overall, identification of cardioprotective factors could lead to future therapeutic targets.
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