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

596 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

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

Cite this

@article{ad82c67a2b1a4f1c91750ab9e993150f,

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",

year = "2014",

month = jul,

day = "3",

doi = "10.1056/NEJMoa1307095",

language = "English",

volume = "371",

pages = "22--31",

journal = "New England Journal of Medicine",

issn = "0028-4793",

publisher = "Massachusetts Medical Society",

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AU - Crosby, Jacy

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.

AB - 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.

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

VL - 371

SP - 22

EP - 31

JO - New England Journal of Medicine

JF - New England Journal of Medicine

SN - 0028-4793

IS - 1

ER -