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The New England journal of medicine DOI:10.1056/NEJMoa1307095

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

Publication TypeJournal Article
Year of Publication2014
Authorsand TG and HDL Working Group of the Exome Sequencing Project, National Heart, LBI, Crosby, J, Peloso, GM, Auer, PL, Crosslin, DR, Stitziel, NO, Lange, LA, Lu, Y, Tang, ZZ, Zhang, H, Hindy, G, Masca, N, Stirrups, K, Kanoni, S, Do, R, Jun, G, Hu, Y, Kang, HM, Xue, C, Goel, A, Farrall, M, Duga, S, Merlini, PA, Asselta, R, Girelli, D, Olivieri, O, Martinelli, N, Yin, W, Reilly, D, Speliotes, E, Fox, CS, Hveem, K, Holmen, OL, Nikpay, M, Farlow, DN, Assimes, TL, Franceschini, N, Robinson, J, North, KE, Martin, LW, DePristo, M, Gupta, N, Escher, SA, Jansson, JH, Van Zuydam, N, Palmer, CN, Wareham, N, Koch, W, Meitinger, T, Peters, A, Lieb, W, Erbel, R, Konig, IR, Kruppa, J, Degenhardt, F, Gottesman, O, Bottinger, EP, O'Donnell, CJ, Psaty, BM, Ballantyne, CM, Abecasis, G, Ordovas, JM, Melander, O, Watkins, H, Orho-Melander, M, Ardissino, D, Loos, RJ, McPherson, R, Willer, CJ, Erdmann, J, Hall, AS, Samani, NJ, Deloukas, P, Schunkert, H, Wilson, JG, Kooperberg, C, Rich, SS, Tracy, RP, Lin, DY, Altshuler, D, Gabriel, S, Nickerson, DA, Jarvik, GP, Cupples, LA, Reiner, AP, Boerwinkle, E, Kathiresan, S
JournalThe New England journal of medicine
Volume371
Issue1
Pages22-31
Date Published2014/07/03
ISSN0028-4793
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.

URLhttp://www.nejm.org/doi/abs/10.1056/NEJMoa1307095?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed
DOI10.1056/NEJMoa1307095
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/24941081?dopt=Abstract