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Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease

The New England journal of medicine, 2014-07, Vol.371 (1), p.32-41 [Peer Reviewed Journal]

Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1308027 ;PMID: 24941082 ;CODEN: NEJMAG

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Title:
Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease
Author: Jørgensen, Anders Berg ; Frikke-Schmidt, Ruth ; Nordestgaard, Børge G ; Tybjærg-Hansen, Anne
Subjects: Adult ; Aged ; Analysis ; Apolipoprotein C-III - blood ; Apolipoprotein C-III - genetics ; Apolipoproteins ; Biological and medical sciences ; Cardiovascular disease ; Cardiovascular diseases ; Cholesterol, LDL - blood ; Coronary artery disease ; Exome ; Female ; Gene mutations ; General aspects ; Genes ; Genotype ; Heart diseases ; Heterozygotes ; Humans ; Incidence ; Influence ; Ischemia ; Ischemia - blood ; Ischemia - epidemiology ; Ischemia - genetics ; Liver - pathology ; Male ; Medical sciences ; Middle Aged ; Mutation ; Myocardial ischemia ; Myocardial Ischemia - blood ; Myocardial Ischemia - epidemiology ; Myocardial Ischemia - genetics ; Plasma levels ; Population studies ; Risk Factors ; Sequence Analysis, DNA ; Triglycerides ; Triglycerides - blood ; Vascular diseases
Is Part Of: The New England journal of medicine, 2014-07, Vol.371 (1), p.32-41
Description: Sequencing of the gene encoding apolipoprotein C3 ( APOC3 ) in participants in two general-population studies identified three rare loss-of-function mutations associated with low plasma triglyceride levels. The risk of ischemic vascular disease was reduced by 41% among carriers of these mutations. Low-density lipoprotein (LDL) cholesterol is the principal target of lipid drugs that have been developed for the prevention of cardiovascular disease. However, even among patients with substantial reductions in LDL cholesterol levels, residual cardiovascular risk persists. 1 Spurred by the strong association between high levels of both fasting and nonfasting triglycerides and the risk of cardiovascular disease, 2 – 6 recent genetic studies involving mendelian randomization have suggested that high levels of nonfasting triglycerides are causally associated with an increased risk of ischemic cardiovascular disease, independent of high-density lipoprotein (HDL) cholesterol levels. 7 , 8 Plasma triglycerides are markers of so-called remnant particles, which include . . .
Publisher: Waltham, MA: Massachusetts Medical Society
Language: English
Identifier: ISSN: 0028-4793
EISSN: 1533-4406
DOI: 10.1056/NEJMoa1308027
PMID: 24941082
CODEN: NEJMAG
Source: ProQuest One Psychology
MEDLINE
Alma/SFX Local Collection
ProQuest Central

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Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease

Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1308027 ;PMID: 24941082 ;CODEN: NEJMAG

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