Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

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Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

Crosby, Jacy (author)

Peloso, Gina M. (author)

Auer, Paul L. (author)

Crosslin, David R. (author)

Stitziel, Nathan O. (author)

Lange, Leslie A. (author)

Lu, Yingchang (author)

Tang, Zheng-zheng (author)

Zhang, He (author)

Hindy, George (author): Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups

Masca, Nicholas (author)

Stirrups, Kathleen (author)

Kanoni, Stavroula (author)

Do, Ron (author)

Jun, Goo (author)

Hu, Youna (author)

Kang, Hyun Min (author)

Xue, Chenyi (author)

Goel, Anuj (author)

Farrall, Martin (author)

Duga, Stefano (author)

Merlini, Pier Angelica (author)

Asselta, Rosanna (author)

Girelli, Domenico (author)

Olivieri, Oliviero (author)

Martinelli, Nicola (author)

Yin, Wu (author)

Reilly, Dermot (author)

Speliotes, Elizabeth (author)

Fox, Caroline S. (author)

Hveem, Kristian (author)

Holmen, Oddgeir L. (author)

Nikpay, Majid (author)

Farlow, Deborah N. (author)

Assimes, Themistocles L. (author)

Franceschini, Nora (author)

Robinson, Jennifer (author)

North, Kari E. (author)

Martin, Lisa W. (author)

DePristo, Mark (author)

Gupta, Namrata (author)

Andersson Escher, Stefan (author)

Jansson, Jan-Håkan (author): Umeå universitet,Medicin,Department of Medicine, Skellefteå Hospital, Skellefteå

Van Zuydam, Natalie (author)

Palmer, Colin N. A. (author)

Wareham, Nicholas (author)

Koch, Werner (author)

Meitinger, Thomas (author)

Peters, Annette (author)

Lieb, Wolfgang (author)

Erbel, Raimund (author)

Konig, Inke R. (author)

Kruppa, Jochen (author)

Degenhardt, Franziska (author)

Gottesman, Omri (author)

Bottinger, Erwin P. (author)

O'Donnell, Christopher J. (author)

Psaty, Bruce M. (author)

Ballantyne, Christie M. (author)

Abecasis, Goncalo (author)

Ordovas, Jose M. (author)

Melander, Olle (author): Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups

Watkins, Hugh (author)

Orho-Melander, Marju (author): Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups

Ardissino, Diego (author)

Loos, Ruth J. F. (author)

McPherson, Ruth (author)

Willer, Cristen J. (author)

Erdmann, Jeanette (author)

Hall, Alistair S. (author)

Samani, Nilesh J. (author)

Deloukas, Panos (author)

Schunkert, Heribert (author)

Wilson, James G. (author)

Kooperberg, Charles (author)

Rich, Stephen S. (author)

Tracy, Russell P. (author)

Lin, Dan-Yu (author)

Altshuler, David (author)

Gabriel, Stacey (author)

Nickerson, Deborah A. (author)

Jarvik, Gail P. (author)

Cupples, L. Adrienne (author)

Reiner, Alex P. (author)

Boerwinkle, Eric (author)

Kathiresan, Sekar (author)

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(creator_code:org_t)

2014
2014
English.
In: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 371:1, s. 22-31

Related links:: https://portal.resea... (primary) (free); show more...; http://dx.doi.org/10...; https://lup.lub.lu.s...; https://doi.org/10.1...; https://urn.kb.se/re...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Background 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. Methods We sequenced the protein-coding regions of 18,666 genes in each of 3734 participants of European or African ancestry in the Exome Sequencing Project. We conducted tests to determine whether rare mutations in coding sequence, individually or in aggregate within a gene, were associated with plasma triglyceride levels. For mutations associated with triglyceride levels, we subsequently evaluated their association with the risk of coronary heart disease in 110,970 persons. Results An aggregate of rare mutations in the gene encoding apolipoprotein C3 (APOC3) was associated with lower plasma triglyceride levels. Among the four mutations that drove this result, three were loss-of-function mutations: a nonsense mutation (R19X) and two splice-site mutations (IVS2+1G -> A and IVS3+1G -> T). The fourth was a missense mutation (A43T). Approximately 1 in 150 persons in the study was a heterozygous carrier of at least one of these four mutations. Triglyceride levels in the carriers were 39% lower than levels in noncarriers (P<1x10(-20)), and circulating levels of APOC3 in carriers were 46% lower than levels in noncarriers (P = 8x10(-10)). The risk of coronary heart disease among 498 carriers of any rare APOC3 mutation was 40% lower than the risk among 110,472 noncarriers (odds ratio, 0.60; 95% confidence interval, 0.47 to 0.75; P = 4x10(-6)). Conclusions Rare mutations that disrupt APOC3 function were associated with lower levels of plasma triglycerides and APOC3. Carriers of these mutations were found to have a reduced risk of coronary heart disease. (Funded by the National Heart, Lung, and Blood Institute and others.)

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By the author/editor: Crosby, Jacy; Peloso, Gina M.; Auer, Paul L.; Crosslin, David ...; Stitziel, Nathan ...; Lange, Leslie A.; show more...; Lu, Yingchang; Tang, Zheng-zhen ...; Zhang, He; Hindy, George; Masca, Nicholas; Stirrups, Kathle ...; Kanoni, Stavroul ...; Do, Ron; Jun, Goo; Hu, Youna; Kang, Hyun Min; Xue, Chenyi; Goel, Anuj; Farrall, Martin; Duga, Stefano; Merlini, Pier An ...; Asselta, Rosanna; Girelli, Domenic ...; Olivieri, Olivie ...; Martinelli, Nico ...; Yin, Wu; Reilly, Dermot; Speliotes, Eliza ...; Fox, Caroline S.; Hveem, Kristian; Holmen, Oddgeir ...; Nikpay, Majid; Farlow, Deborah ...; Assimes, Themist ...; Franceschini, No ...; Robinson, Jennif ...; North, Kari E.; Martin, Lisa W.; DePristo, Mark; Gupta, Namrata; Andersson Escher ...; Jansson, Jan-Håk ...; Van Zuydam, Nata ...; Palmer, Colin N. ...; Wareham, Nichola ...; Koch, Werner; Meitinger, Thoma ...; Peters, Annette; Lieb, Wolfgang; Erbel, Raimund; Konig, Inke R.; Kruppa, Jochen; Degenhardt, Fran ...; Gottesman, Omri; Bottinger, Erwin ...; O'Donnell, Chris ...; Psaty, Bruce M.; Ballantyne, Chri ...; Abecasis, Goncal ...; Ordovas, Jose M.; Melander, Olle; Watkins, Hugh; Orho-Melander, M ...; Ardissino, Diego; Loos, Ruth J. F.; McPherson, Ruth; Willer, Cristen ...; Erdmann, Jeanett ...; Hall, Alistair S ...; Samani, Nilesh J ...; Deloukas, Panos; Schunkert, Herib ...; Wilson, James G.; Kooperberg, Char ...; Rich, Stephen S.; Tracy, Russell P ...; Lin, Dan-Yu; Altshuler, David; Gabriel, Stacey; Nickerson, Debor ...; Jarvik, Gail P.; Cupples, L. Adri ...; Reiner, Alex P.; Boerwinkle, Eric; Kathiresan, Seka ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cardiac and Card ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Endocrinology an ...

Articles in the publication: New England Jour ...

By the university: Lund University; Umeå University

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Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

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