Monogenic and Polygenic Models of Coronary Artery Disease
Open accessAbstract
Purpose of the review Coronary artery disease (CAD) is a common disease globally attributable to the interplay of complex genetic and lifestyle factors. Here, we review how genomic sequencing advances have broadened the fundamental understanding of the monogenic and polygenic contributions to CAD and how these insights can be utilized, in part by creating polygenic risk estimates, for improved disease risk stratification at the individual patient level.Recent findings Initial studies linking premature CAD with rare familial cases of elevated blood lipids highlighted high-risk monogenic contributions, predominantly presenting as familial hypercholesterolemia (FH). More commonly CAD genetic risk is a function of multiple, higher frequency variants each imparting lower magnitude of risk, which can be combined to form polygenic risk scores (PRS) conveying significant risk to individuals at the extremes. However, gaps remain in clinical validation of PRSs, most notably in non-European populations. With improved and more broadly utilized genomic sequencing technologies, the genetic underpinnings of coronary artery disease are being unraveled. As a result, polygenic risk estimation is poised to become a widely used and powerful tool in the clinical setting. While the use of PRSs to augment current clinical risk stratification for optimization of cardiovascular disease risk by lifestyle change or therapeutic targeting is promising, we await adequately powered, prospective studies, demonstrating the clinical utility of polygenic risk estimation in practice.
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AMD heritability is not controlled by a single mutation that can be identified from a pedigree analysis and observed in a family line.
“Unlike a monogenic (Mendelian) disease, AMD heritability is not controlled by a single mutation that can be identified from a pedigree analysis and observed in a family line [18,19].”
From Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians. (2024) · cites this paper as [19]
The Introduction’s “Heritability of CAD” section describes monogenic diseases as resulting from a single-gene mutation, and the familial hypercholesterolemia section discusses identifying mutations through family studies and testing relatives. The paper addresses coronary artery disease, not AMD, so it does not establish the AMD-specific claim about heritability or pedigree analysis. (LLM, conf=0.84)
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- Authors
- Muse, E. D., Chen, S.-F., & Torkamani, A.
- Affiliations
- Scripps Research Institute (US)
- Corresponding author
- Torkamani, Ali
- Venue
- Current Cardiology Reports
- Published
- 2021-07-01
- Volume
- 23
- Issue
- 8
- Pages
- 107-107
- ISSN
- 1523-3782 (ISSN-L)
- 1534-3170
- PMC
- PMC8317496
- OpenAlex
- W3175780079
- Cited by
- 27
- References
- 115
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 10 · 2023: 3 · 2022: 5
- FWCI
- 0.66
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Current Cardiology Reports (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Human Genome Research Institute (HG010881)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- coronary artery disease, polygenic risk score, familial hypercholesterolemia, premature coronary artery disease, genetic risk factors, cardiovascular risk stratification, non-European populations
- MeSH terms
- Coronary Artery Disease, Humans, Prospective Studies, Risk Factors, Genetic Predisposition to Disease, Multifactorial Inheritance
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