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

997 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

UN SDGs

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

SDG 3 Good Health and Well-being

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

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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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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

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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

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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

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DO - 10.1056/NEJMoa1307095

M3 - Article

C2 - 24941081

SN - 0028-4793

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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

UN SDGs

Keywords

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Palmer, Colin

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