Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease-Reference-Cited by-同舟云学术

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Published:2016-03-11 Issue:6278 Volume:351 Page:1166-1171
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Zanoni Paolo¹,Khetarpal Sumeet A.¹,Larach Daniel B.¹,Hancock-Cerutti William F.¹²,Millar John S.¹,Cuchel Marina¹,DerOhannessian Stephanie¹,Kontush Anatol²,Surendran Praveen³,Saleheen Danish³⁴⁵,Trompet Stella⁶⁷,Jukema J. Wouter⁷⁸,De Craen Anton⁶,Deloukas Panos⁹,Sattar Naveed¹⁰,Ford Ian¹¹,Packard Chris¹²,Majumder Abdullah al Shafi¹³,Alam Dewan S.¹⁴,Di Angelantonio Emanuele³,Abecasis Goncalo¹⁵,Chowdhury Rajiv³,Erdmann Jeanette¹⁶,Nordestgaard Børge G.¹⁷,Nielsen Sune F.¹⁷,Tybjærg-Hansen Anne¹⁸,Schmidt Ruth Frikke¹⁹,Kuulasmaa Kari²⁰,Liu Dajiang J.²¹,Perola Markus²⁰²²,Blankenberg Stefan²³²⁴,Salomaa Veikko²⁰,Männistö Satu²⁰,Amouyel Philippe²⁵,Arveiler Dominique²⁶,Ferrieres Jean²⁷,Müller-Nurasyid Martina²⁸²⁹,Ferrario Marco³⁰,Kee Frank³¹,Willer Cristen J.³²,Samani Nilesh³³³⁴,Schunkert Heribert³⁵,Butterworth Adam S.³,Howson Joanna M. M.³,Peloso Gina M.³⁶,Stitziel Nathan O.³⁷,Danesh John³⁹,Kathiresan Sekar³⁶,Rader Daniel J.¹,Watson Sarah,Schmidt Ellen M.,Sengupta Sebanti,Gustafsson Stefan,Kanoni Stavroula,Ganna Andrea,Chen Jin,Buchkovich Martin L.,Mora Samia,Beckmann Jacques S.,Bragg-Gresham Jennifer L.,Chang Hsing-Yi,Demirkan Ayşe,Den Hertog Heleen M.,Do Ron,Donnelly Louise A.,Ehret Georg B.,Esko Tõnu,Feitosa Mary F.,Ferreira Teresa,Fischer Krista,Fontanillas Pierre,Fraser Ross M.,Freitag Daniel F.,Gurdasani Deepti,Heikkilä Kauko,Hyppönen Elina,Isaacs Aaron,Jackson Anne U.,Johansson Åsa,Johnson Toby,Kaakinen Marika,Kettunen Johannes,Kleber Marcus E.,Li Xiaohui,Luan Jian’an,Lyytikäinen Leo-Pekka,Magnusson Patrik K. E.,Mangino Massimo,Mihailov Evelin,Montasser May E.,Nolte Ilja M.,O’Connell Jeffrey R.,Palmer Cameron D.,Petersen Ann-Kristin,Sanna Serena,Saxena Richa,Service Susan K.,Shah Sonia,Shungin Dmitry,Sidore Carlo,Song Ci,Strawbridge Rona J.,Surakka Ida,Tanaka Toshiko,Teslovich Tanya M.,Thorleifsson Gudmar,Van den Herik Evita G.,Voight Benjamin F.,Volcik Kelly A.,Waite Lindsay L.,Wong Andrew,Wu Ying,Zhang Weihua,Absher Devin,Asiki Gershim,Barroso Inês,Been Latonya F.,Bolton Jennifer L.,Bonnycastle Lori L.,Brambilla Paolo,Burnett Mary S.,Cesana Giancarlo,Dimitriou Maria,Doney Alex S. F.,Döring Angela,Elliott Paul,Epstein Stephen E.,Eyjolfsson Gudmundur Ingi,Gigante Bruna,Goodarzi Mark O.,Grallert Harald,Gravito Martha L.,Groves Christopher J.,Hallmans Göran,Hartikainen Anna-Liisa,Hayward Caroline,Hernandez Dena,Hicks Andrew A.,Holm Hilma,Hung Yi-Jen,Illig Thomas,Jones Michelle R.,Kaleebu Pontiano,Kastelein John J. P.,Khaw Kay-Tee,Kim Eric,Klopp Norman,Komulainen Pirjo,Kumari Meena,Langenberg Claudia,Lehtimäki Terho,Lin Shih-Yi,Lindström Jaana,Loos Ruth J. F.,Mach François,McArdle Wendy L.,Meisinger Christa,Mitchell Braxton D.,Müller Gabrielle,Nagaraja Ramaiah,Narisu Narisu,Nieminen Tuomo V. M.,Nsubuga Rebecca N.,Olafsson Isleifur,Ong Ken K.,Palotie Aarno,Papamarkou Theodore,Pomilla Cristina,Pouta Anneli,Reilly Muredach P.,Ridker Paul M.,Rivadeneira Fernando,Rudan Igor,Ruokonen Aimo,Scharnagl Hubert,Seeley Janet,Silander Kaisa,Stancáková Alena,Stirrups Kathleen,Swift Amy J.,Tiret Laurence,Uitterlinden Andre G.,van Pelt L. J.,Vedantam Sailaja,Wainwright Nicholas,Wijmenga Cisca,Wild Sarah H.,Willemsen Gonneke,Wilsgaard Tom,Wilson James F.,Young Elizabeth H.,Zhao Jing Hua,Adair Linda S.,Arveiler Dominique,Assimes Themistocles L.,Bandinelli Stefania,Bennett Franklyn,Bochud Murielle,Boehm Bernhard O.,Boomsma Dorret I.,Borecki Ingrid B.,Bornstein Stefan R.,Bovet Pascal,Burnier Michel,Campbell Harry,Chakravarti Aravinda,Chambers John C.,Chen Yii-Der Ida,Collins Francis S.,Cooper Richard S.,Dedoussis George,de Faire Ulf,Feranil Alan B.,Ferrucci Luigi,Freimer Nelson B.,Gieger Christian,Groop Leif C.,Gudnason Vilmundur,Gyllensten Ulf,Hamsten Anders,Harris Tamara B.,Hingorani Aroon,Hirschhorn Joel N.,Hofman Albert,Hovingh G. Kees,Hsiung Chao Agnes,Humphries Steve E.,Hunt Steven C.,Hveem Kristian,Iribarren Carlos,Järvelin Marjo-Riitta,Jula Antti,Kähönen Mika,Kaprio Jaakko,Kesäniemi Antero,Kivimaki Mika,Kooner Jaspal S.,Koudstaal Peter J.,Krauss Ronald M.,Kuh Diana,Kuusisto Johanna,Kyvik Kirsten O.,Laakso Markku,Lakka Timo A.,Lind Lars,Lindgren Cecilia M.,Martin Nicholas G.,März Winfried,McCarthy Mark I.,McKenzie Colin A.,Meneton Pierre,Metspalu Andres,Moilanen Leena,Morris Andrew D.,Munroe Patricia B.,Njølstad Inger,Pedersen Nancy L.,Power Chris,Pramstaller Peter P.,Price Jackie F.,Psaty Bruce M.,Quertermous Thomas,Rauramaa Rainer,Salomaa Veikko,Sanghera Dharambir K.,Saramies Jouko,Schwarz Peter E. H.,Sheu Wayne H.-H.,Shuldiner Alan R.,Siegbahn Agneta,Spector Tim D.,Stefansson Kari,Strachan David P.,Tayo Bamidele O.,Tremoli Elena,Tuomilehto Jaakko,Uusitupa Matti,van Duijn Cornelia M.,Vollenweider Peter,Wallentin Lars,Wareham Nicholas J.,Whitfield John B.,Wolffenbuttel Bruce H. R.,Ordovas Jose M.,Boerwinkle Eric,Palmer Colin N. A.,Thorsteinsdottir Unnur,Chasman Daniel I.,Rotter Jerome I.,Franks Paul W.,Riatti Samuli,Cupples L. Adrienne,Sandhu Manjinder S.,Rich Stephen S.,Boehnke Michael,Deloukas Panos,Mohlke Karen L.,Ingelsson Erik,Gu Dongfeng,Roberts Robert,Watkins Hugh,Blankenberg Stefan,Clarke Robert,Collins Rory,Kim Bong-Jo,McPherson Ruth,Nieminen Markku S.,O'Donnell Christopher,Schreiber Stefan,Siegbahn Agneta,Zalloua Pierre A., , ,

Affiliation:

1. Departments of Genetics and Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

2. INSERM UMR 1166 ICAN, Université Pierre et Marie Curie Paris 6, Hôpital de la Pitié, Paris, France.

3. Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

4. Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

5. Centre for Non-Communicable Diseases, Karachi, Pakistan.

6. Department of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, Netherlands.

7. Department of Cardiology, Leiden University Medical Center, Leiden, Netherlands.

8. The Interuniversity Cardiology Institute of the Netherlands, Utrecht, Netherlands.

9. Wellcome Trust Sanger Institute, Genome Campus, Hinxton, UK.

10. Institute of Cardiovascular and Medical Sciences, British Heart Foundation, Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, UK.

11. Robertson Center for Biostatistics, University of Glasgow, Glasgow, UK.

12. Glasgow Clinical Research Facility, Western Infirmary, Glasgow, UK.

13. National Institute of Cardiovascular Diseases, Sher-e-Bangla Nagar, Dhaka, Bangladesh.

14. International Centre for Diarrhoeal Disease Research, Mohakhali, Dhaka, Bangladesh.

15. Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.

16. Institute for Integrative and Experimental Genomics, University of Lübeck, Lübeck 23562, Germany.

17. Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.

18. Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.

19. Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospitals, Copenhagen, Denmark.

20. Department of Health, National Institute for Health and Welfare, Helsinki, Finland.

21. Department of Public Health Sciences, College of Medicine, Pennsylvania State University, Hershey, PA 17033, USA.

22. Institute of Molecular Medicine FIMM, University of Helsinki, Helsinki, Finland.

23. Department of General and Interventional Cardiology, University Heart Center Hamburg, Hamburg, Germany.

24. University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

25. Department of Epidemiology and Public Health, Institut Pasteur de Lille, Lille, France.

26. Department of Epidemiology and Public Health, University of Strasbourg, Strasbourg, France.

27. Department of Epidemiology, Toulouse University-CHU Toulouse, Toulouse, France.

28. Institute of Genetic Epidemiology, Helmholtz Zentrum München–German Research Center for Environmental Health, Neuherberg, Germany.

29. Department of Medicine I, Ludwig-Maximilians-University Munich, Munich, Germany.

30. Research Centre in Epidemiology and Preventive Medicine, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.

31. UKCRC Centre of Excellence for Public Health, Queens University, Belfast, Northern Ireland.

32. Department of Computational Medicine and Bioinformatics, Department of Human Genetics, and Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.

33. Department of Cardiovascular Sciences, University of Leicester, Leicester, UK.

34. National Institute for Health Research (NIHR) Leicester Cardiovascular Biomedical Research Unit, Glenfield Hotel, Leicester, UK.

35. Deutsches Herzzentrum München, Technische Universität München, Munich, Germany.

36. Broad Institute and Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

37. Department of Medicine, Division of Cardiology, Department of Genetics, and the McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA.

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

Funder

National Center for Research Resources

National Center for Advancing Translational Sciences of the NIH

Doris Duke Charitable Foundation

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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