Genetic Polymorphisms and Lipid Metabolism in Cardiovascular Disease
Summary
Cardiovascular disease arises in large part from atherosclerotic plaque formation driven by imbalances in lipid metabolism. Genetic polymorphisms—single-nucleotide variations in the genome—contribute to interindividual differences in plasma cholesterol and triglyceride levels and thereby modulate susceptibility to coronary artery disease, stroke and related vascular events. Key genes encode proteins responsible for lipid transport, esterification and clearance. Variants in ATP-binding cassette transporter A1 (ABCA1) alter high-density lipoprotein (HDL) biogenesis and reverse cholesterol transport, influencing plaque stability. Polymorphisms in cholesteryl ester transfer protein (CETP) modify the exchange of cholesterol esters between lipoproteins, impacting HDL and low-density lipoprotein (LDL) profiles. Beyond coding changes, non-coding variants regulate gene expression via effects on transcriptional enhancers or microRNA binding. Integration of genetic, transcriptomic and metabolomic datasets is now illuminating how these polymorphisms interact with diet, lifestyle and other environmental factors, paving the way for personalised risk assessment and targeted interventions in dyslipidaemia and cardiovascular prevention.
Research from Nature Portfolio
Recent meta-analyses have consolidated the impact of a common polymorphism in ABCA1 (R219K) on plasma lipid levels. Pooled data indicate that carriers of the 219K allele exhibit modestly higher HDL cholesterol and lower triglyceride concentrations compared to non-carriers, reinforcing its protective role in atherosclerosis. Heterogeneity across ethnicities and health status highlights the need to consider demographic and metabolic covariates when interpreting these associations.
Genetic Polymorphisms and Lipid Metabolism in Cardiovascular Disease publication trend
The graph below shows the total number of articles in genetic polymorphisms and lipid metabolism in cardiovascular disease across all publications each year (not limited to Nature Index journals).
Technical terms
Genetic polymorphism: Variation in a DNA sequence at a specific locus that occurs commonly within a population.
ATP-binding cassette transporter A1 (ABCA1): A membrane protein that mediates cholesterol and phospholipid efflux to apolipoprotein A-I, initiating reverse cholesterol transport.
Cholesteryl ester transfer protein (CETP): A plasma protein that transfers cholesteryl esters from HDL to apoB-containing lipoproteins, affecting HDL and LDL levels.
High-density lipoprotein (HDL): A class of lipoprotein particles involved in the transport of excess cholesterol from peripheral tissues back to the liver.
Reverse cholesterol transport: The biological process by which cholesterol is moved from peripheral cells to the liver for excretion, atheroprotective in nature.
References
- Identification and Molecular Simulation of Genetic Variants in ABCA1 Gene Associated with Susceptibility to Dyslipidemia in Type 2 Diabetes. International Journal of Molecular Sciences (2024).
- The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians. Human Genomics (2016).
- Influence of ATP-Binding Cassette Transporter 1 R219K and M883I Polymorphisms on Development of Atherosclerosis: A Meta-Analysis of 58 Studies. PLOS ONE (2014).
- Association between the ABCA1 (R219K) polymorphism and lipid profiles: a meta-analysis. Scientific Reports (2021).
Turn complex research questions into confident strategic decisions
When you're under pressure to set direction, justify investment, or understand your competitive position, you need more than raw data — you need trusted insights you can act on.
Benchmark your performance against global peers using robust, methodologically sound analysis.
Combine quantitative metrics with qualitative expert insight to uncover strengths, gaps and emerging opportunities.
Gain tailored, decision-ready recommendations aligned to your strategic priorities.
Talk to us to learn more about our data dashboards and bespoke strategy reports.
Grow research skills, confidence and careers with training built for every stage of the research lifecycle.
Developed with Nature Portfolio journal Editors and internationally renowned experts. Discover three ways to learn:
Self-paced, online courses in convenient bite-sized units, covering key skills across scientific writing, publishing, grant writing, data analysis, and more.
Expert trainer-led workshops with hands-on exercises and real-time feedback across core research skills, delivered via interactive group sessions.
Editor-led workshops combining core principles in writing and publishing, personalised 1:1 feedback from Nature Portfolio Editors and hands-on exercises.
Explore course catalogues and workshop agendas, enquire about the options or request institutional pricing.