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Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease
Authors
Paolo Zanoni,Sumeet Khetarpal
Daniel Larach,William Hancock‐Cerutti,John Millar,Marina Cuchel,Stephanie DerOhannessian,Anatol Kontush,Praveen Surendran,Danish Saleheen,Stella Trompet,J. Jukema,Anton Craen,Panos Deloukas,Naveed Sattar,Ian Deary,Chris Packard,Abdullah Majumder,Dewan Alam,Emanuele Angelantonio,Gonçalo Abecasis,Rajiv Chowdhury,Jeanette Erdmann,Børge Nordestgaard,Sune Nielsen,Anne Tybjærg‐Hansen,Ruth Frikke‐Schmidt,Kari Kuulasmaa,Dajiang Liu,Markus Perola,Stefan Blankenberg,Veikko Salomaa,Satu Männistö,Philippe Amouyel,Dominique Arveiler,Jean Ferrières,Martina Müller‐Nurasyid,M Ferrario,Frank Kee,Cristen Willer,Nilesh Samani,Heribert Schunkert,Adam Butterworth,Joanna Howson,Gina Peloso,Nathan Stitziel,John Danesh,Sekar Kathiresan,Daniel Rader,Sarah Watson,Ellen Schmidt,Sebanti Sengupta,Stefan Gustafsson,Stavroula Kanoni,Andrea Ganna,Ming‐Huei Chen,Martin Buchkovich,Samia Mora,J. Beckmann,Jennifer Bragg‐Gresham,Hsing‐Yi Chang,Ayşe Demirkan,Heleen Hertog,Ron Do,Louise Donnelly,Georg Ehret,Tõnu Esko,Mary Feitosa,Teresa Ferreira,Krista Fischer,Pierre Fontanillas,Ross Fraser,Daniel Freitag,Deepti Gurdasani,Kauko Heikkilä,Elina Hyppönen,Aaron Isaacs,Mika Kähönen,Åsa Johansson,Toby Johnson,Marika Kaakinen,Johannes Kettunen,Marcus Kleber,Xiaohui Li,Jian’an Luan,Leo‐Pekka Lyytikäinen,Patrik Magnusson,Massimo Mangino,Evelin Mihailov,May Montasser,Ilja Nolte,Jeffrey O’Connell,Colin Palmer,Ann-Kristin Petersen,Serena Sanna,Richa Saxena,Susan Service,Sonia Shah,Dmitry Shungin,Carlo Sidore,Ci Song,Rona Strawbridge,Ida Surakka,Toshiko Tanaka,Jan Staessen,Guðmar Þorleifsson,Evita Herik,Benjamin Voight,Kelly Volcik,Lindsay Waite,Andrew Wong,Wei Zheng,Weihua Zhang,Albert Hofman,Gershim Asiki,Inês Barroso,Latonya Been,Jennifer Bolton,Lori Bonnycastle,Paolo Brambilla,Mary Burnett,Giancarlo Cesana,Maria Dimitriou,Alex Doney,Angela Döring,Paul Elliott,Stephen Epstein,Guðmundur Eyjólfsson,Bruna Gigante,Mark Goodarzi,Harald Grallert,Martha Gravito,Christopher Mathew,Göran Hallmans,Anna-Liisa Hartikainen,Caroline Hayward,Francisco Barrero,Andrew Hicks,Hilma Hólm,Yi‐Jen Hung,Thomas Meitinger,Michelle Jones,Pontiano Kaleebu,John Kastelein,Kay‐Tee Khaw,Eric Kim,Norman Klopp,José Krieger,Meena Kumari,Claudia Langenberg,Terho Lehtimäki,Shih-Yi Lin,Jaana Lindström,Ruth Loos,François Mach,Wendy McArdle,Christa Meisinger,Braxton Mitchell,Gabrielle Müller,Ramaiah Nagaraja,Narisu Narisu,Tuomo Nieminen,Rebecca Nsubuga,Ísleifur Ólafsson,Ken Ong,Aarno Palotie,Theodore Papamarkou,Cristina Pomilla,Anneli Pouta,Muredach Reilly,Paul Franks,Fernando Rivadeneira,Igor Rudan,A Ruokonen,Hubert Scharnagl,Janet Seeley,Kaisa Silander,Alena Stančáková,Kathleen Stirrups,Amy Swift,Laurence Tiret,André Uitterlinden,L. Pelt,Sailaja Vedantam,Nicholas Wainwright,Cisca Wijmenga,Sarah Wild,Gonneke Willemsen,Tom Gaunt,James Pankow,Elizabeth Young,Jing Zhao,Linda Broer,Themistocles Assimes,Stefania Bandinelli,Franklyn Bennett,Murielle Bochud,Bernhard Boehm,Francesco Cucca,Ingrid Borecki,Stefan Bornstein,Pascal Bovet,Michel Burnier,Harry Hemingway,Aravinda Chakravarti,Nicole Soranzo,Francis Collins,Richard Cooper,George Smith,Ulf Fairé,Alan Feranil,Luigi Ferrucci,Christian Gieger,Leif Groop,Vilmundur Guðnason,Ulf Gyllensten,Anders Hamsten,Tamara Harris,Aroon Hingorani,Joel Hirschhorn,G. Hovingh,Victoria Cortessis,Steve Humphries,Steven Kahn,Kristian Hveem,Carlos Iribarren,Marjo‐Riitta Järvelin,Antti Jula,Jaakko Kaprio,Antero Kesäniemi,Mika Kivimäki,Peter Koudstaal,Ronald Krauss,Bagher Larijani,Kirsten Kyvik,Markku Laakso,Timo Lakka,Lars Lind,Cecilia Lindgren,Nicholas Martin,Winfried März,Mark McCarthy,Colin Chapman,Pierre Meneton,Andres Metspalu,Leena Moilanen,Raymond Noordam,Patricia Munroe,Inger Njølstad,Nancy Pedersen,Chris Power,Peter Pramstaller,Jackie Price,Bruce Wolffenbuttel,Thomas Quertermous,Rainer Rauramaa,Dharambir Sanghera,Abhijit Sen,Peter Schwarz,Wayne Sheu,Alan Shuldiner,Agneta Siegbahn,Tim Spector,Kāri Stefánsson,Bamidele Tayo,Elena Tremoli,Jaakko Tuomilehto,Matti Uusitupa,Cornelia Duijn,Péter Vollenweider,Lars Wallentin,John Whitfield,José Ordovás,Eric Boerwinkle,Unnur Þorsteinsdóttir,Christie Ballantyne,Brenda Penninx,Samuli Riatti,L. Cupples,Manjinder Sandhu,Stephen Rich,Michael Boehnke,Karen Kapur,Erik Ingelsson,Dongfeng Gu,Robert Roberts,Hugh Watkins,Robert Clarke,Rory Collins,Olle Melander,Ruth McPherson,Markku Nieminen,Christopher O’Donnell,Stefan Schreiber,Pierre Zalloua,Ian Ford,Jonas Nielsen,Dominique Guyader,Marco Ferrario,Ming-Huei Chen,Jacques Beckmann
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,Anne JacksonJournal
Published
Mar 10, 2016
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Abstract
A scavenger that protects the heart Coronary heart disease is a tale of two forms of plasma cholesterol. In contrast to the well-established effects of “bad” cholesterol (LDL-C), the role of “good” cholesterol (HDL-C) is mysterious. Elevated HDL-C correlates with a lower risk of heart disease, yet drugs that raise HDL-C levels do not reduce risk. Zanoni et al. found that some people with exceptionally high levels of HDL-C carry a rare sequence variant in the gene encoding the major HDL-C receptor, scavenger receptor BI. This variant destroys the receptor's ability to take up HDL-C. Interestingly, people with this variant have a higher risk of heart disease despite having high levels of HDL-C. Science , this issue p. 1166
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