LIPA Variants in Genome-Wide Association Studies of Coronary Artery Diseases Loss-of-Function or Gain-of-Function?

被引:12
作者
Zhang, Hanrui [1 ]
Reilly, Muredach P. [1 ,2 ]
机构
[1] Columbia Univ, Div Cardiol, Dept Med, Med Ctr, New York, NY USA
[2] Columbia Univ, Irving Inst Clin & Translat Res, New York, NY USA
基金
美国国家卫生研究院;
关键词
Editorials; atherosclerosis; cholesteryl esters; coronary artery disease; genetics; macrophage; LYSOSOMAL ACID LIPASE; LOW-DENSITY-LIPOPROTEIN; SEBELIPASE ALPHA; CELLS; DEFICIENCY;
D O I
10.1161/ATVBAHA.117.309344
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:1015 / 1017
页数:3
相关论文
共 25 条
  • [1] The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
    Ardlie, Kristin G.
    DeLuca, David S.
    Segre, Ayellet V.
    Sullivan, Timothy J.
    Young, Taylor R.
    Gelfand, Ellen T.
    Trowbridge, Casandra A.
    Maller, Julian B.
    Tukiainen, Taru
    Lek, Monkol
    Ward, Lucas D.
    Kheradpour, Pouya
    Iriarte, Benjamin
    Meng, Yan
    Palmer, Cameron D.
    Esko, Tonu
    Winckler, Wendy
    Hirschhorn, Joel N.
    Kellis, Manolis
    MacArthur, Daniel G.
    Getz, Gad
    Shabalin, Andrey A.
    Li, Gen
    Zhou, Yi-Hui
    Nobel, Andrew B.
    Rusyn, Ivan
    Wright, Fred A.
    Lappalainen, Tuuli
    Ferreira, Pedro G.
    Ongen, Halit
    Rivas, Manuel A.
    Battle, Alexis
    Mostafavi, Sara
    Monlong, Jean
    Sammeth, Michael
    Mele, Marta
    Reverter, Ferran
    Goldmann, Jakob M.
    Koller, Daphne
    Guigo, Roderic
    McCarthy, Mark I.
    Dermitzakis, Emmanouil T.
    Gamazon, Eric R.
    Im, Hae Kyung
    Konkashbaev, Anuar
    Nicolae, Dan L.
    Cox, Nancy J.
    Flutre, Timothee
    Wen, Xiaoquan
    Stephens, Matthew
    [J]. SCIENCE, 2015, 348 (6235) : 648 - 660
  • [2] Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
    Bernstein, Donna L.
    Huelkova, Helena
    Bialer, Martin G.
    Desnick, Robert J.
    [J]. JOURNAL OF HEPATOLOGY, 2013, 58 (06) : 1230 - 1243
  • [3] A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
    Burton, B. K.
    Balwani, M.
    Feillet, F.
    Baric, I.
    Burrow, T. A.
    Camarena Grande, C.
    Coker, M.
    Consuelo-Sanchez, A.
    Deegan, P.
    Di Rocco, M.
    Enns, G. M.
    Erbe, R.
    Ezgu, F.
    Ficicioglu, C.
    Furuya, K. N.
    Kane, J.
    Laukaitis, C.
    Mengel, E.
    Neilan, E. G.
    Nightingale, S.
    Peters, H.
    Scarpa, M.
    Schwab, K. O.
    Smolka, V.
    Valayannopoulos, V.
    Wood, M.
    Goodman, Z.
    Yang, Y.
    Eckert, S.
    Rojas-Caro, S.
    Quinn, A. G.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2015, 373 (11) : 1010 - 1020
  • [4] Large-Scale Gene-Centric Analysis Identifies Novel Variants for Coronary Artery Disease
    Butterworth, Adam S.
    Braund, Peter S.
    Farrall, Martin
    Hardwick, Robert J.
    Saleheen, Danish
    Peden, John F.
    Soranzo, Nicole
    Chambers, John C.
    Sivapalaratnam, Suthesh
    Kleber, Marcus E.
    Keating, Brendan
    Qasim, Atif
    Klopp, Norman
    Erdmann, Jeanette
    Assimes, Themistocles L.
    Ball, Stephen G.
    Balmforth, Anthony J.
    Barnes, Timothy A.
    Basart, Hanneke
    Baumert, Jens
    Bezzina, Connie R.
    Boerwinkle, Eric
    Boehm, Bernhard O.
    Brocheton, Jessy
    Bugert, Peter
    Cambien, Francois
    Clarke, Robert
    Codd, Veryan
    Collins, Rory
    Couper, David
    Cupples, L. Adrienne
    de Jong, Jonas S.
    Diemert, Patrick
    Ejebe, Kenechi
    Elbers, Clara C.
    Elliott, Paul
    Fornage, Myriam
    Franzosi, Maria-Grazia
    Frossard, Philippe
    Garner, Stephen
    Goel, Anuj
    Goodall, Alison H.
    Hengstenberg, Christian
    Hunt, Sarah E.
    Kastelein, John J. P.
    Klungel, Olaf H.
    Klueter, Harald
    Koch, Kerstin
    Koenig, Inke R.
    Kooner, Angad S.
    [J]. PLOS GENETICS, 2011, 7 (09):
  • [5] Effects of cellular cholesterol loading on macrophage foam cell lysosome acidification
    Cox, Brian E.
    Griffin, Evelyn E.
    Ullery, Jody C.
    Jerome, W. Gray
    [J]. JOURNAL OF LIPID RESEARCH, 2007, 48 (05) : 1012 - 1021
  • [6] Large-scale association analysis identifies new risk loci for coronary artery disease
    Deloukas, Panos
    Kanoni, Stavroula
    Willenborg, Christina
    Farrall, Martin
    Assimes, Themistocles L.
    Thompson, John R.
    Ingelsson, Erik
    Saleheen, Danish
    Erdmann, Jeanette
    Goldstein, Benjamin A.
    Stirrups, Kathleen
    Koenig, Inke R.
    Cazier, Jean-Baptiste
    Johansson, Asa
    Hall, Alistair S.
    Lee, Jong-Young
    Willer, Cristen J.
    Chambers, John C.
    Esko, Tonu
    Folkersen, Lasse
    Goel, Anuj
    Grundberg, Elin
    Havulinna, Aki S.
    Ho, Weang K.
    Hopewell, Jemma C.
    Eriksson, Niclas
    Kleber, Marcus E.
    Kristiansson, Kati
    Lundmark, Per
    Lyytikainen, Leo-Pekka
    Rafelt, Suzanne
    Shungin, Dmitry
    Strawbridge, Rona J.
    Thorleifsson, Gudmar
    Tikkanen, Emmi
    Van Zuydam, Natalie
    Voight, Benjamin F.
    Waite, Lindsay L.
    Zhang, Weihua
    Ziegler, Andreas
    Absher, Devin
    Altshuler, David
    Balmforth, Anthony J.
    Barroso, Ines
    Braund, Peter S.
    Burgdorf, Christof
    Claudi-Boehm, Simone
    Cox, David
    Dimitriou, Maria
    Do, Ron
    [J]. NATURE GENETICS, 2013, 45 (01) : 25 - U52
  • [7] Enzyme therapy for lysosomal acid lipase deficiency in the mouse
    Du, H
    Schiavi, S
    Levine, M
    Mishra, J
    Heur, M
    Grabowski, GA
    [J]. HUMAN MOLECULAR GENETICS, 2001, 10 (16) : 1639 - 1648
  • [8] Lysosomal acid lipase: at the crossroads of normal and atherogenic cholesterol metabolism
    Dubland, Joshua A.
    Francis, Gordon A.
    [J]. FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2015, 3
  • [9] GOLDSTEIN JL, 1975, J BIOL CHEM, V250, P8487
  • [10] Monocyte-Derived Dendritic Cells Upregulate Extracellular Catabolism of Aggregated Low-Density Lipoprotein on Maturation, Leading to Foam Cell Formation
    Haka, Abigail S.
    Singh, Rajesh K.
    Grosheva, Inna
    Hoffner, Haley
    Capetillo-Zarate, Estibaliz
    Chin, Harvey F.
    Anandasabapathy, Niroshana
    Maxfield, Frederick R.
    [J]. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2015, 35 (10) : 2092 - 2103