The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
A PCSK9 Missense Variant Associated with a Reduced Risk of Early-Onset Myocardial Infarction
Open accessAbstract
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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“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]
In the citing paper
“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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Citations
Cites
Sequence Variations in PCSK9, Low LDL, and Protection against Coronary Heart Disease
Cohen, J. C., Boerwinkle, E., Mosley, T. H., & Hobbs, H. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa054013 · Cited by 3,181
Kathiresan, S., Melander, O., Guiducci, C., Surti, A., Burtt, N. P., Rieder, M. J., Cooper, G. M., Roos, C., Voight, B. F., Havulinna, A. S., et al. (2008) · Nature Genetics · doi:10.1038/ng.75 · Cited by 1,386
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Evolocumab and Clinical Outcomes in Patients with Cardiovascular Disease
Sabatine, M. S., Giugliano, R. P., Keech, A. C., Honarpour, N., Wiviott, S. D., Murphy, S. A., Kuder, J. F., Wang, H., Liu, T., Wasserman, S. M., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1615664 · Cited by 6,138
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
the CARDIoGRAMplusC4D Consortium (2015) · Nature Genetics · doi:10.1038/ng.3396 · Cited by 2,447
A Century of Cholesterol and Coronaries: From Plaques to Genes to Statins
Goldstein, J. L., & Brown, M. S. (2015) · Cell · doi:10.1016/j.cell.2015.01.036 · Cited by 1,233
Myocardial Infarction Genetics Consortium (2009) · Nature Genetics · doi:10.1038/ng.327 · Cited by 1,088
Self-citationFerence, B. A., Yoo, W., Alesh, I., Mahajan, N., Mirowska, K. K., Mewada, A., Kahn, J., Afonso, L., Williams, K. A., & Flack, J. M. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2012.09.017 · Cited by 898
Metadata
- 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 › Cardiology and Cardiovascular Medicine › 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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