Scientific Publications

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

Publication TypeJournal Article
Authorsand TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung Blood Institute, 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., and Kathiresan S.
AbstractPlasma 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.
Year of Publication2014
JournalThe New England journal of medicine
Volume371
Issue1
Pages22-31
Date Published (YYYY/MM/DD)2014/07/03
ISSN Number0028-4793
DOI10.1056/NEJMoa1307095
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/24941081?dopt=Abstract