Cited by 183Genetic Associations and EpidemiologyLipoproteins and Cardiovascular HealthAcute Myocardial Infarction Research

A PCSK9 Missense Variant Associated with a Reduced Risk of Early-Onset Myocardial Infarction

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Kathiresan, Sekar·2008·New England Journal of Medicine

Abstract

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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Crossref · 10.1056/nejmc0707445

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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”
  • 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).”

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Authors
Kathiresan, S.
Corresponding author
Kathiresan, Sekar
Venue
New England Journal of Medicine
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
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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