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

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Fältnamn	Indikatorer	Metadata
000		07589naa a2201381 4500
001		oai:lup.lub.lu.se:fafa9f3d-3670-4bd9-a44d-110e3c713f0f
003		SwePub
008		160401s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:DiVA.org:umu-104169
024	7	a https://lup.lub.lu.se/record/46026452 URI
024	7	a https://doi.org/10.1056/NEJMoa13070952 DOI
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1041692 URI
040		a (SwePub)lud (SwePub)umu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Crosby, Jacy4 aut
245	1 0	a Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
264	1	c 2014
338		a electronic2 rdacarrier
520		a 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.)
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Kardiologi0 (SwePub)302062 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cardiac and Cardiovascular Systems0 (SwePub)302062 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
700	1	a Peloso, Gina M.4 aut
700	1	a Auer, Paul L.4 aut
700	1	a Crosslin, David R.4 aut
700	1	a Stitziel, Nathan O.4 aut
700	1	a Lange, Leslie A.4 aut
700	1	a Lu, Yingchang4 aut
700	1	a Tang, Zheng-zheng4 aut
700	1	a Zhang, He4 aut
700	1	a Hindy, Georgeu Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups4 aut0 (Swepub:lu)med-ghu
700	1	a Masca, Nicholas4 aut
700	1	a Stirrups, Kathleen4 aut
700	1	a Kanoni, Stavroula4 aut
700	1	a Do, Ron4 aut
700	1	a Jun, Goo4 aut
700	1	a Hu, Youna4 aut
700	1	a Kang, Hyun Min4 aut
700	1	a Xue, Chenyi4 aut
700	1	a Goel, Anuj4 aut
700	1	a Farrall, Martin4 aut
700	1	a Duga, Stefano4 aut
700	1	a Merlini, Pier Angelica4 aut
700	1	a Asselta, Rosanna4 aut
700	1	a Girelli, Domenico4 aut
700	1	a Olivieri, Oliviero4 aut
700	1	a Martinelli, Nicola4 aut
700	1	a Yin, Wu4 aut
700	1	a Reilly, Dermot4 aut
700	1	a Speliotes, Elizabeth4 aut
700	1	a Fox, Caroline S.4 aut
700	1	a Hveem, Kristian4 aut
700	1	a Holmen, Oddgeir L.4 aut
700	1	a Nikpay, Majid4 aut
700	1	a Farlow, Deborah N.4 aut
700	1	a Assimes, Themistocles L.4 aut
700	1	a Franceschini, Nora4 aut
700	1	a Robinson, Jennifer4 aut
700	1	a North, Kari E.4 aut
700	1	a Martin, Lisa W.4 aut
700	1	a DePristo, Mark4 aut
700	1	a Gupta, Namrata4 aut
700	1	a Andersson Escher, Stefan4 aut
700	1	a Jansson, Jan-Håkanu Umeå universitet,Medicin,Department of Medicine, Skellefteå Hospital, Skellefteå4 aut0 (Swepub:umu)jaja0006
700	1	a Van Zuydam, Natalie4 aut
700	1	a Palmer, Colin N. A.4 aut
700	1	a Wareham, Nicholas4 aut
700	1	a Koch, Werner4 aut
700	1	a Meitinger, Thomas4 aut
700	1	a Peters, Annette4 aut
700	1	a Lieb, Wolfgang4 aut
700	1	a Erbel, Raimund4 aut
700	1	a Konig, Inke R.4 aut
700	1	a Kruppa, Jochen4 aut
700	1	a Degenhardt, Franziska4 aut
700	1	a Gottesman, Omri4 aut
700	1	a Bottinger, Erwin P.4 aut
700	1	a O'Donnell, Christopher J.4 aut
700	1	a Psaty, Bruce M.4 aut
700	1	a Ballantyne, Christie M.4 aut
700	1	a Abecasis, Goncalo4 aut
700	1	a Ordovas, Jose M.4 aut
700	1	a Melander, Olleu Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)endo-ome
700	1	a Watkins, Hugh4 aut
700	1	a Orho-Melander, Marjuu Lund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups4 aut0 (Swepub:lu)endo-mor
700	1	a Ardissino, Diego4 aut
700	1	a Loos, Ruth J. F.4 aut
700	1	a McPherson, Ruth4 aut
700	1	a Willer, Cristen J.4 aut
700	1	a Erdmann, Jeanette4 aut
700	1	a Hall, Alistair S.4 aut
700	1	a Samani, Nilesh J.4 aut
700	1	a Deloukas, Panos4 aut
700	1	a Schunkert, Heribert4 aut
700	1	a Wilson, James G.4 aut
700	1	a Kooperberg, Charles4 aut
700	1	a Rich, Stephen S.4 aut
700	1	a Tracy, Russell P.4 aut
700	1	a Lin, Dan-Yu4 aut
700	1	a Altshuler, David4 aut
700	1	a Gabriel, Stacey4 aut
700	1	a Nickerson, Deborah A.4 aut
700	1	a Jarvik, Gail P.4 aut
700	1	a Cupples, L. Adrienne4 aut
700	1	a Reiner, Alex P.4 aut
700	1	a Boerwinkle, Eric4 aut
700	1	a Kathiresan, Sekar4 aut
710	2	a Diabetes - kardiovaskulär sjukdomb Forskargrupper vid Lunds universitet4 org
773	0	t New England Journal of Medicineg 371:1, s. 22-31q 371:1<22-31x 0028-4793x 1533-4406
856	4	u https://portal.research.lu.se/files/2445641/8147418x primaryx freey FULLTEXT
856	4	u http://dx.doi.org/10.1056/NEJMoa1307095y FULLTEXT
856	4 8	u https://lup.lub.lu.se/record/4602645
856	4 8	u https://doi.org/10.1056/NEJMoa1307095
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-104169

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Av författaren/redakt...: Crosby, Jacy; Peloso, Gina M.; Auer, Paul L.; Crosslin, David ...; Stitziel, Nathan ...; Lange, Leslie A.; visa fler...; 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 ...; visa färre...

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