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Common Single Nucleotide Polymorphisms in Clinical Cardiology and Dietary Intervention: A Narrative Review
Jacob Michael Hands1, Kevin Blain2, Sahar Swidan2
1Department of Pathology, University of Southern California, Los Angeles, CA 90033, USA.
Nutrients
|July 28, 2026
Summary
Common genetic markers for cardiovascular disease (CVD) risk, influenced by diet, are becoming accessible. While promising, these candidate-actionable loci require further validation for clinical use alongside polygenic risk scores.
Area of Science:
- Cardiovascular Genomics
- Nutrigenetics
- Lipid Metabolism
Background:
- Genomic testing for rare cardiovascular disease (CVD) mutations is established but limited. Common single nucleotide polymorphisms (SNPs) affecting lipid metabolism and CVD risk are increasingly available via clinical and direct-to-consumer (DTC) platforms.
- These common SNPs, termed "candidate-actionable," show genotype-by-diet interactions, but their full clinical utility is not yet demonstrated.
Purpose of the Study:
- To review evidence for six common loci (APOA1, APOE, LIPC, LPL, ANGPTL3, FADS1/2) modulating lipid metabolism and CVD risk.
- To frame these loci as complementary to polygenic risk scores (PRSs) and discuss epistatic interactions and epigenetic modulators.
- To propose an integrated framework combining PRS, locus-level SNPs, and epigenetic state, and compare testing platforms.
Main Methods:
- Narrative review synthesizing evidence on common SNPs, genotype-by-diet interactions, and epigenetic modulators.
- Analysis of observational and small interventional studies.
- Comparison of current clinical and DTC genetic testing platforms.
Main Results:
- Six common loci (APOA1, APOE, LIPC, LPL, ANGPTL3, FADS1/2) show genotype-by-diet associations relevant to lipid metabolism and CVD risk.
- Illustrative epistatic interactions (e.g., APOE ε4 × FADS) and epigenetic influences were identified.
- Dietary recommendations based on these loci are hypothesis-generating, requiring prospective validation.
Conclusions:
- Common SNPs offer a complementary approach to PRSs for assessing CVD risk, with potential for personalized nutrition strategies.
- Further large-scale, genotype-stratified prospective trials are essential to validate clinical utility and management guidelines.
- An integrated framework combining PRS, SNPs, and epigenetics may enhance CVD risk prediction and prevention.
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