Common Single Nucleotide Polymorphisms in Clinical Cardiology and Dietary Intervention: A Narrative Review
Abstract
Genomic testing for rare, highly penetrant cardiovascular pathogenic mutations is well established, but its scarcity limits broader clinical utility. As cardiogenomics matures, common single nucleotide polymorphisms (SNPs) associated with cardiovascular disease (CVD) risk are increasingly accessible to clinicians and patients through both clinician-ordered and direct-to-consumer (DTC) platforms. This narrative review synthesizes evidence for six common loci-APOA1, APOE, LIPC, LPL, ANGPTL3, and FADS1/2, here termed "candidate-actionable" in the limited sense that genotype-by-diet associations have been described, but the full chain of analytical validity, clinical validity, clinical utility, and evidence-supported management has not been demonstrated-that modulate lipid metabolism and CVD risk and that show genotype-by-diet interactions in observational and small interventional studies. We frame these loci as complementary to validated polygenic risk scores (PRSs), discuss two illustrative epistatic axes (APOE ε4 × FADS major T-allele; ANGPTL3 × LPL), summarize emerging epigenetic modulators of the same loci, and propose an integrated framework combining PRS, locus-level SNPs, and epigenetic state. All locus-specific dietary considerations are explicitly framed as hypothesis-generating pending validation in adequately powered, genotype-stratified prospective trials. A comparison of consumer and clinical testing platforms-updated to reflect recent ownership and regulatory…
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