A PCSK9 Missense Variant Associated with a Reduced Risk of Early-Onset Myocardial Infarction
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CasePatients Controls % Finland FINRISK 209 210 1.3 4.1 0.30 (0.11-0.84) 0.02 Sweden Malmö Diet and Cancer Study -cardiovascular cohort 150 149 0.7 2.0 0.32 (0.07-1.61) 0.17 Spain Registre Gironi del Cor (REGICOR) 361 361 1.0 2.8 0.35 (0.15-0.82) 0.02 Seattle Heart Attack Risk in Puget Sound 542 631 0.9 1.9 0.45 (0.21-0.98) 0.
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Carriage of PCSK9 loss-of-function alleles is associated with lower LDL cholesterol levels and a reduced risk of myocardial infarction.
“Genetic studies have shown that carriage of PCSK9 loss-of-function alleles is associated with lower LDL cholesterol levels and a reduced risk of myocardial infarction.7,8”
From Evolocumab and Clinical Outcomes in Patients with Cardiovascular Disease (2017) · cites this paper as [8]
Individuals heterozygous for mutations that inactivate one copy of the PCSK9 gene have plasma LDL-cholesterol levels approximately 30% lower and experience a 90% reduction in heart attacks, independently of smoking, hypertension, and diabetes.
“Indeed, individuals heterozygous for mutations that inactivate one copy of the PCSK9 gene have plasma LDL-cholesterol levels that are approximately 30% lower (which are similar to those induced by treatment with statins), and experience a 90% reduction in heart attacks, independently of smoking, hypertension, and diabetes (36).”
From Health Benefits of the Mediterranean Diet: Metabolic and Molecular Mechanisms (2018) · cites this paper as [36]
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Regulation of Lipoprotein Homeostasis by Self-Assembling Peptides
Harbour, V., Casillas, C., Siddiqui, Z., Sarkar, B., Sanyal, S., Nguyen, P. K., Kim, K. K., Roy, A., Iglesias-Montoro, P., Patel, S., et al. (2020) · ACS Applied Bio Materials · doi:10.1021/acsabm.0c01229 · Cited by 16 · see citing works
Consensus statement on the management of dyslipidemia in Indian subjects: A different perspective
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No large-effect low-frequency coding variation found for myocardial infarction
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- Authors
- Kathiresan, S.
- Corresponding author
- Kathiresan, Sekar
- ORCID
- Kathiresan, Sekar
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2008-05-22
- Volume
- 358
- Issue
- 21
- Pages
- 2299-2300
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2086180480
- Cited by
- 183
- References
- 2
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 4 · 2023: 8 · 2022: 5 · 2021: 13 · 2020: 13 · 2019: 10 · 2018: 21 · 2017: 13 · 2016: 16 · 2015: 14 · 2014: 12 · 2013: 12 · 2012: 7
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Acute Myocardial Infarction Research
- Keywords
- PCSK9, missense mutations, early-onset myocardial infarction, cardiovascular risk, genetic association, LDL cholesterol, Malmö Diet and Cancer Study, REGICOR
- MeSH terms
- Proprotein Convertase 9, Adult, Female, Humans, Cholesterol, LDL, Male, Middle Aged, Myocardial Infarction, Risk, Serine Endopeptidases, Age of Onset, Mutation, Missense, Proprotein Convertases
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