作者
Paolo Zanoni, Sumeet A Khetarpal, Daniel B Larach, William F Hancock-Cerutti, John S Millar, Marina Cuchel, Stephanie DerOhannessian, Anatol Kontush, Praveen Surendran, Danish Saleheen, Stella Trompet, J Wouter Jukema, Anton De Craen, Panos Deloukas, Naveed Sattar, Ian Ford, Chris Packard, Abdullah al Shafi Majumder, Dewan S Alam, Emanuele Di Angelantonio, Goncalo Abecasis, Rajiv Chowdhury, Jeanette Erdmann, Børge G Nordestgaard, Sune F Nielsen, Anne Tybjærg-Hansen, Ruth Frikke Schmidt, Kari Kuulasmaa, Dajiang J Liu, Markus Perola, Stefan Blankenberg, Veikko Salomaa, Satu Männistö, Philippe Amouyel, Dominique Arveiler, Jean Ferrieres, Martina Müller-Nurasyid, Marco Ferrario, Frank Kee, Cristen J Willer, Nilesh Samani, Heribert Schunkert, Adam S Butterworth, Joanna MM Howson, Gina M Peloso, Nathan O Stitziel, John Danesh, Sekar Kathiresan, Daniel J Rader, CHD Exome+ Consortium, CARDIoGRAM Exome Consortium, Global Lipids Genetics Consortium, Sarah Watson, Ellen M Schmidt, Sebanti Sengupta, Stefan Gustafsson, Stavroula Kanoni, Andrea Ganna, Jin Chen, Martin L Buchkovich, Samia Mora, Jacques S Beckmann, Jennifer L Bragg-Gresham, Hsing-Yi Chang, Ayşe Demirkan, Heleen M Den Hertog, Ron Do, Louise A Donnelly, Georg B Ehret, Tõnu Esko, Mary F Feitosa, Teresa Ferreira, Krista Fischer, Pierre Fontanillas, Ross M Fraser, Daniel F Freitag, Deepti Gurdasani, Kauko Heikkilä, Elina Hyppönen, Aaron Isaacs, Anne U Jackson, Åsa Johansson, Toby Johnson, Marika Kaakinen, Johannes Kettunen, Marcus E Kleber, Xiaohui Li, Jian’an Luan, Leo-Pekka Lyytikäinen, Patrik KE Magnusson, Massimo Mangino, Evelin Mihailov, May E Montasser, Ilja M Nolte, Jeffrey R O’Connell, Cameron D Palmer, Ann-Kristin Petersen, Serena Sanna, Richa Saxena, Susan K Service, Sonia Shah, Dmitry Shungin, Carlo Sidore, Ci Song, Rona J Strawbridge, Ida Surakka, Toshiko Tanaka, Tanya M Teslovich, Gudmar Thorleifsson, Evita G Van den Herik, Benjamin F Voight, Kelly A Volcik, Lindsay L Waite, Andrew Wong, Ying Wu, Weihua Zhang, Devin Absher, Gershim Asiki, Inês Barroso, Latonya F Been, Jennifer L Bolton, Lori L Bonnycastle, Paolo Brambilla, Mary S Burnett, Giancarlo Cesana, Maria Dimitriou, Alex SF Doney, Angela Döring, Paul Elliott, Stephen E Epstein, Gudmundur Ingi Eyjolfsson, Bruna Gigante, Mark O Goodarzi, Harald Grallert, Martha L Gravito, Christopher J Groves, Göran Hallmans, Anna-Liisa Hartikainen, Caroline Hayward, Dena Hernandez, Andrew A Hicks, Hilma Holm, Yi-Jen Hung, Thomas Illig, Michelle R Jones, Pontiano Kaleebu, John JP Kastelein, Kay-Tee Khaw, Eric Kim, Norman Klopp
发表日期
2016/3/11
期刊
Science
卷号
351
期号
6278
页码范围
1166-1171
出版商
American Association for the Advancement of Science
简介
Scavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) cholesterol (HDL-C). In humans, high amounts of HDL-C in plasma are associated with a lower risk of coronary heart disease (CHD). Mice that have depleted Scarb1 (SR-BI knockout mice) have markedly elevated HDL-C levels but, paradoxically, increased atherosclerosis. The impact of SR-BI on HDL metabolism and CHD risk in humans remains unclear. Through targeted sequencing of coding regions of lipid-modifying genes in 328 individuals with extremely high plasma HDL-C levels, we identified a homozygote for a loss-of-function variant, in which leucine replaces proline 376 (P376L), in SCARB1, the gene encoding SR-BI. The P376L variant impairs posttranslational processing of SR-BI and abrogates selective HDL cholesterol uptake in transfected cells, in hepatocyte-like cells derived from induced pluripotent stem cells …
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P Zanoni, SA Khetarpal, DB Larach… - Science, 2016