Loss-of-function mutations in APOC3, triglycerides, and coronary disease

TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute; Sekar Kathiresan

doi:10.1056/NEJMoa1307095

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, Sekar Kathiresan (Lead / Corresponding author)

Research output: Contribution to journal › Article › peer-review

922 Citations (Scopus)

Abstract

Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.

Original language	English
Pages (from-to)	22-31
Number of pages	10
Journal	New England Journal of Medicine
Volume	371
Issue number	1
DOIs	https://doi.org/10.1056/NEJMoa1307095
Publication status	Published - 3 Jul 2014

Keywords

African Continental Ancestry Group
Apolipoprotein C-III
Coronary Disease
European Continental Ancestry Group
Exome
Genotype
Heterozygote
Humans
Liver
Mutation
Risk Factors
Sequence Analysis, DNA
Triglycerides

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1056/NEJMoa1307095

http://www.nejm.org/medical-index

Palmer, Colin
- Population Health and Genomics - Professor (Teaching and Research) of Pharmacogenomics
Person: Academic

Cite this

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title = "Loss-of-function mutations in APOC3, triglycerides, and coronary disease",

abstract = "Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.",

keywords = "African Continental Ancestry Group, Apolipoprotein C-III, Coronary Disease, European Continental Ancestry Group, Exome, Genotype, Heterozygote, Humans, Liver, Mutation, Risk Factors, Sequence Analysis, DNA, Triglycerides",

author = "Jacy Crosby and Peloso, \{Gina M.\} and Auer, \{Paul L.\} and Crosslin, \{David R.\} and Stitziel, \{Nathan O.\} and Lange, \{Leslie A.\} and Yingchang Lu and Zheng-zheng Tang and He Zhang and George Hindy and Nicholas Masca and Kathleen Stirrups and Stavroula Kanoni and Ron Do and Goo Jun and Youna Hu and Kang, \{Hyun Min\} and Chenyi Xue and Anuj Goel and Martin Farrall and Stefano Duga and Merlini, \{Pier Angelica\} and Rosanna Asselta and Domenico Girelli and Oliviero Olivieri and Nicola Martinelli and Wu Yin and Dermot Reilly and Elizabeth Speliotes and Fox, \{Caroline S.\} and Kristian Hveem and Holmen, \{Oddgeir L.\} and Majid Nikpay and Farlow, \{Deborah N.\} and Assimes, \{Themistocles L.\} and Nora Franceschini and Jennifer Robinson and North, \{Kari E.\} and Martin, \{Lisa W.\} and Mark DePristo and Namrata Gupta and Escher, \{Stefan A.\} and Jan-H{\aa}kan Jansson and \{Van Zuydam\}, Natalie and Palmer, \{Colin N. A.\} and Nicholas Wareham and Werner Koch and Thomas Meitinger and Annette Peters and Wolfgang Lieb and \{TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute\} and Sekar Kathiresan",

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doi = "10.1056/NEJMoa1307095",

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AU - Peloso, Gina M.

AU - Auer, Paul L.

AU - Crosslin, David R.

AU - Stitziel, Nathan O.

AU - Lange, Leslie A.

AU - Lu, Yingchang

AU - Tang, Zheng-zheng

AU - Zhang, He

AU - Hindy, George

AU - Masca, Nicholas

AU - Stirrups, Kathleen

AU - Kanoni, Stavroula

AU - Do, Ron

AU - Jun, Goo

AU - Hu, Youna

AU - Kang, Hyun Min

AU - Xue, Chenyi

AU - Goel, Anuj

AU - Farrall, Martin

AU - Duga, Stefano

AU - Merlini, Pier Angelica

AU - Asselta, Rosanna

AU - Girelli, Domenico

AU - Olivieri, Oliviero

AU - Martinelli, Nicola

AU - Yin, Wu

AU - Reilly, Dermot

AU - Speliotes, Elizabeth

AU - Fox, Caroline S.

AU - Hveem, Kristian

AU - Holmen, Oddgeir L.

AU - Nikpay, Majid

AU - Farlow, Deborah N.

AU - Assimes, Themistocles L.

AU - Franceschini, Nora

AU - Robinson, Jennifer

AU - North, Kari E.

AU - Martin, Lisa W.

AU - DePristo, Mark

AU - Gupta, Namrata

AU - Escher, Stefan A.

AU - Jansson, Jan-Håkan

AU - Van Zuydam, Natalie

AU - Palmer, Colin N. A.

AU - Wareham, Nicholas

AU - Koch, Werner

AU - Meitinger, Thomas

AU - Peters, Annette

AU - Lieb, Wolfgang

AU - TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute

AU - Kathiresan, Sekar

PY - 2014/7/3

Y1 - 2014/7/3

N2 - Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.

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KW - African Continental Ancestry Group

KW - Apolipoprotein C-III

KW - Coronary Disease

KW - European Continental Ancestry Group

KW - Exome

KW - Genotype

KW - Heterozygote

KW - Humans

KW - Liver

KW - Mutation

KW - Risk Factors

KW - Sequence Analysis, DNA

KW - Triglycerides

U2 - 10.1056/NEJMoa1307095

DO - 10.1056/NEJMoa1307095

M3 - Article

C2 - 24941081

SN - 0028-4793

VL - 371

SP - 22

EP - 31

JO - New England Journal of Medicine

JF - New England Journal of Medicine

IS - 1

ER -

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

Abstract

Keywords

UN SDGs

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Palmer, Colin

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