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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 13887naa a2201897 4500 | |
| 001 | oai:DiVA.org:umu-119276 | |
| 003 | SwePub | |
| 008 | 160415s2016 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:f898cd57-135e-4de5-881b-0ff15cdc1dca | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1192762 URI |
| 024 | 7 | a https://doi.org/10.1056/NEJMoa15076522 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/f898cd57-135e-4de5-881b-0ff15cdc1dca2 URI |
| 040 | a (SwePub)umud (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Stitziel, Nathan O.u Washington University in St. Louis,University of Verona4 aut |
| 245 | 1 0 | a Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease |
| 264 | 1 | c 2016 |
| 338 | a print2 rdacarrier | |
| 500 | a Errata New England Journal of Medicine (2016) 374(19), p 1898 DOI: 10.1056/NEJMxx160012 | |
| 520 | a BACKGROUND The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P = 4.2x10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P = 4.0x10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P = 0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P = 0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P = 2.0x10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P = 2.5x10(-7)). CONCLUSIONS We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. | |
| 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 Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 700 | 1 | a Stirrups, Kathleen E.u University of Cambridge4 aut |
| 700 | 1 | a Masca, Nicholas G. D.u Glenfield Hospital,University of Verona4 aut |
| 700 | 1 | a Erdmann, Jeanetteu German Centre for Cardiovascular Research4 aut |
| 700 | 1 | a Ferrario, Paola G.u British Columbia Children's Hospital4 aut |
| 700 | 1 | a Koenig, Inke R.u British Columbia Children's Hospital4 aut |
| 700 | 1 | a Weeke, Peter E.u Copenhagen University Hospital4 aut |
| 700 | 1 | a Webb, Thomas R.u Glenfield Hospital4 aut |
| 700 | 1 | a Auer, Paul L.u University of Wisconsin-Milwaukee4 aut |
| 700 | 1 | a Schick, Ursula M.u Icahn School of Medicine at Mount Sinai4 aut |
| 700 | 1 | a Lu, Yingchangu Icahn School of Medicine at Mount Sinai4 aut |
| 700 | 1 | a Zhang, Heu University of Michigan4 aut |
| 700 | 1 | a Dube, Marie-Pierreu Montreal Heart Institute4 aut |
| 700 | 1 | a Goel, Anuju University of Oxford4 aut |
| 700 | 1 | a Farrall, Martinu University of Oxford4 aut |
| 700 | 1 | a Peloso, Gina M.u Helsinki University Central Hospital4 aut |
| 700 | 1 | a Won, Hong-Heeu Sungkyunkwan University4 aut |
| 700 | 1 | a Do, Ronu Icahn School of Medicine at Mount Sinai4 aut |
| 700 | 1 | a van Iperen, Eriku Academic Medical Center of University of Amsterdam (AMC)4 aut |
| 700 | 1 | a Kanoni, Stavroulau Queen Mary University4 aut |
| 700 | 1 | a Kruppa, Jochenu University of Göttingen4 aut |
| 700 | 1 | a Mahajan, Anubhau University of Oxford4 aut |
| 700 | 1 | a Scott, Robert A.u Addenbrooke's Hospital,King Abdulaziz University4 aut |
| 700 | 1 | a Willenborg, Christinau German Centre for Cardiovascular Research4 aut |
| 700 | 1 | a Braund, Peter S.u Glenfield Hospital4 aut |
| 700 | 1 | a van Capelleveen, Julian C.u Academic Medical Center of University of Amsterdam (AMC)4 aut |
| 700 | 1 | a Doney, Alex S. F.u University of Dundee4 aut |
| 700 | 1 | a Donnelly, Louise A.u University of Dundee4 aut |
| 700 | 1 | a Asselta, Rosannau Humanitas Research Hospital4 aut |
| 700 | 1 | a Merlini, Piera A.u Niguarda Hospital4 aut |
| 700 | 1 | a Duga, Stefanou Humanitas Research Hospital4 aut |
| 700 | 1 | a Marziliano, Nicolau Associazione per lo Studio della Trombosi in Cardiologia4 aut |
| 700 | 1 | a Denny, Josh C.u Vanderbilt University4 aut |
| 700 | 1 | a Shaffer, Christian M.u Vanderbilt University,Helmholtz Zentrum München4 aut |
| 700 | 1 | a El-Mokhtari, Nour Eddineu Kreiskrankenhaus Rendsburg4 aut |
| 700 | 1 | a Franke, Andreu University of Kiel4 aut |
| 700 | 1 | a Gottesman, Omriu Icahn School of Medicine at Mount Sinai4 aut |
| 700 | 1 | a Heilmann, Stefanieu University of Bonn4 aut |
| 700 | 1 | a Hengstenberg, Christianu Technical University of Munich4 aut |
| 700 | 1 | a Hoffmann, Peru University of Basel4 aut |
| 700 | 1 | a Holmen, Oddgeir L.u St. Olav’s University Hospital4 aut |
| 700 | 1 | a Hveem, Kristianu Nord-Trøndelag Health Trust4 aut |
| 700 | 1 | a Jansson, Jan-Håkanu Umeå University,Umeå universitet,Medicin4 aut0 (Swepub:umu)jaja0006 |
| 700 | 1 | a Joeckel, Karl-Heinzu University Hospital Essen4 aut |
| 700 | 1 | a Kessler, Thorstenu Technical University of Munich4 aut |
| 700 | 1 | a Kriebel, Jenniferu German Center for Diabetes Research4 aut |
| 700 | 1 | a Laugwitz, Karl L.u Klinikum rechts der Isar4 aut |
| 700 | 1 | a Marouli, Eiriniu Queen Mary University4 aut |
| 700 | 1 | a Martinelli, Nicolau University of Verona4 aut |
| 700 | 1 | a McCarthy, Mark I.u Churchill Hospital4 aut |
| 700 | 1 | a Van Zuydam, Natalie R.u University of Oxford4 aut |
| 700 | 1 | a Meisinger, Christa4 aut |
| 700 | 1 | a Esko, Tonuu University of Tartu4 aut |
| 700 | 1 | a Mihailov, Evelinu University of Tartu4 aut |
| 700 | 1 | a Andersson Escher, Stefanu Lund University4 aut0 (Swepub:umu)stan0002 |
| 700 | 1 | a Alver, Marisu University of Tartu4 aut |
| 700 | 1 | a Moebus, Susanneu University Hospital Essen4 aut |
| 700 | 1 | a Morris, Andrew D.u University of Edinburgh4 aut |
| 700 | 1 | a Mueller-Nurasyid, Martinau Helmholtz Zentrum München4 aut |
| 700 | 1 | a Nikpay, Majidu University of Ottawa4 aut |
| 700 | 1 | a Olivieri, Olivierou Merck Sharp And Dohme Corp., US4 aut |
| 700 | 1 | a Perreault, Louis-Philippe Lemieuxu Montreal Heart Institute4 aut |
| 700 | 1 | a AlQarawi, Alaau University of Dundee4 aut |
| 700 | 1 | a Robertson, Neil R.u University of Oxford4 aut |
| 700 | 1 | a Akinsanya, Karen O.4 aut |
| 700 | 1 | a Reilly, Dermot F.u Merck Sharp And Dohme Corp., US4 aut |
| 700 | 1 | a Vogt, Thomas F.u Merck Sharp And Dohme Corp., US4 aut |
| 700 | 1 | a Yin, Wuu Merck Sharp And Dohme Corp., US4 aut |
| 700 | 1 | a Asselbergs, Folkert W.u University Medical Center Utrecht4 aut |
| 700 | 1 | a Kooperberg, Charlesu University of Washington4 aut |
| 700 | 1 | a Jackson, Rebecca D.u Ohio State University4 aut |
| 700 | 1 | a Stahl, Eliu Icahn School of Medicine at Mount Sinai4 aut |
| 700 | 1 | a Strauch, Konstantinu Helmholtz Zentrum München4 aut |
| 700 | 1 | a Varga, Tibor V.u Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-tv_ |
| 700 | 1 | a Waldenberger, Melanieu Helmholtz Zentrum München4 aut |
| 700 | 1 | a Zeng, Lingyaou Technical University of Munich4 aut |
| 700 | 1 | a Kraja, Aldi T.u Washington University in St. Louis4 aut |
| 700 | 1 | a Liu, Chunyuu National Heart Lung and Blood Institute4 aut |
| 700 | 1 | a Ehret, Georg B.u Johns Hopkins University4 aut |
| 700 | 1 | a Newton-Cheh, Christopheru Helsinki University Central Hospital4 aut |
| 700 | 1 | a Chasman, Daniel I.u Brigham and Women's Hospital / Harvard Medical School4 aut |
| 700 | 1 | a Chowdhury, Rajivu University of Cambridge4 aut |
| 700 | 1 | a Ferrario, Marcou University of Insubria4 aut |
| 700 | 1 | a Ford, Ianu University of Glasgow4 aut |
| 700 | 1 | a Jukema, J. Wouteru Leiden University Medical Centre4 aut |
| 700 | 1 | a Kee, Franku Queen's University Belfast4 aut |
| 700 | 1 | a Kuulasmaa, Kariu Finnish National Institute for Health and Welfare4 aut |
| 700 | 1 | a Nordestgaard, Borge G.u Copenhagen University Hospital4 aut |
| 700 | 1 | a Perola, Markusu Finnish National Institute for Health and Welfare4 aut0 (Swepub:lu)med-mkp |
| 700 | 1 | a Saleheen, Danishu Center for Non-Communicable Diseases4 aut |
| 700 | 1 | a Sattar, Naveedu University of Glasgow4 aut |
| 700 | 1 | a Surendran, Praveenu University of Cambridge4 aut |
| 700 | 1 | a Tregouet, Davidu Pitié-Salpêtrière University Hospital4 aut |
| 700 | 1 | a Young, Robinu University of Cambridge4 aut |
| 700 | 1 | a Howson, Joanna M. M.u University of Cambridge4 aut |
| 700 | 1 | a Butterworth, Adam S.u University of Cambridge4 aut |
| 700 | 1 | a Danesh, Johnu Wellcome Trust Sanger Institute4 aut |
| 700 | 1 | a Ardissino, Diegou Associazione per lo Studio della Trombosi in Cardiologia4 aut |
| 700 | 1 | a Bottinger, Erwin P.u Icahn School of Medicine at Mount Sinai4 aut |
| 700 | 1 | a Erbel, Raimundu University Hospital Essen4 aut |
| 700 | 1 | a Franks, Paul W.u Umeå University,Lund University,Lunds universitet,Livsmedelsteknik,Avdelningen för livsmedel och läkemedel,Institutionen för processteknik och tillämpad biovetenskap,Institutioner vid LTH,Lunds Tekniska Högskola,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Department of Food Technology, Engineering and Nutrition,Division of Food and Pharma,Department of Process and Life Science Engineering,Departments at LTH,Faculty of Engineering, LTH,Genetic and Molecular Epidemiology,Lund University Research Groups,Harvard University,Norrland University Hospital4 aut0 (Swepub:lu)med-plf |
| 700 | 1 | a Girelli, Domenico4 aut |
| 700 | 1 | a Hall, Alistair S.u University of Leeds4 aut |
| 700 | 1 | a Hovingh, G. Keesu Academic Medical Center of University of Amsterdam (AMC)4 aut |
| 700 | 1 | a Kastrati, Adnanu Technical University of Munich4 aut |
| 700 | 1 | a Lieb, Wolfgangu University of Kiel4 aut |
| 700 | 1 | a Meitinger, Thomasu Helmholtz Zentrum München4 aut |
| 700 | 1 | a Kraus, William E.u Duke University4 aut |
| 700 | 1 | a Shah, Svati H.u Duke University4 aut |
| 700 | 1 | a McPherson, Ruthu University of Ottawa4 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 Melander, Olleu Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Department of Clinical Sciences, Malmö,Faculty of Medicine,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)endo-ome |
| 700 | 1 | a Metspalu, Andresu University of Tartu4 aut |
| 700 | 1 | a Palmer, Colin N. A.4 aut |
| 700 | 1 | a Peters, Annetteu Helmholtz Zentrum München4 aut |
| 700 | 1 | a Rader, Daniel J.u University of Pennsylvania4 aut |
| 700 | 1 | a Reilly, Muredach P.u University of Pennsylvania4 aut |
| 700 | 1 | a Loos, Ruth J. F.u Icahn School of Medicine at Mount Sinai4 aut |
| 700 | 1 | a Reiner, Alex P.u University of Washington4 aut |
| 700 | 1 | a Roden, Dan M.u Vanderbilt University4 aut |
| 700 | 1 | a Tardif, Jean-Claudeu Montreal Heart Institute4 aut |
| 700 | 1 | a Thompson, John R.u Glenfield Hospital4 aut |
| 700 | 1 | a Wareham, Nicholas J.u Addenbrooke's Hospital4 aut |
| 700 | 1 | a Watkins, Hughu University of Oxford4 aut |
| 700 | 1 | a Willer, Cristen J.u University of Michigan4 aut |
| 700 | 1 | a Kathiresan, Sekaru Helsinki University Central Hospital4 aut |
| 700 | 1 | a Deloukas, Panosu King Abdulaziz University4 aut |
| 700 | 1 | a Samani, Nilesh J.u Glenfield Hospital4 aut |
| 700 | 1 | a Schunkert, Heribertu Technical University of Munich4 aut |
| 710 | 2 | a Washington University in St. Louisb University of Verona4 org |
| 773 | 0 | t New England Journal of Medicineg 374:12, s. 1134-1144q 374:12<1134-1144x 0028-4793x 1533-4406 |
| 856 | 4 | u http://dx.doi.org/10.1056/NEJMoa1507652y FULLTEXT |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-119276 |
| 856 | 4 8 | u https://doi.org/10.1056/NEJMoa1507652 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/f898cd57-135e-4de5-881b-0ff15cdc1dca |
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