Cited by 545Cholesterol and Lipid MetabolismLipoproteins and Cardiovascular HealthLipid metabolism and disorders

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

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Zanoni, Paolo, Khetarpal, Sumeet A., Larach, Daniel B., Hancock-Cerutti, William F., Millar, John S., Cuchel, Marina, DerOhannessian, Stephanie, Kontush, Anatol +306 more·2016·Science

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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  1. [3]Frikke-Schmidt R JAMA 299 2524 2532 2008 18523221
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Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., Trompet, S., Jukema, J. W., De Craen, A., Deloukas, P., Sattar, N., Ford, I., Packard, C., Majumder, A. A. S., Alam, D. S., Di Angelantonio, E., Abecasis, G., Chowdhury, R., Erdmann, J., Nordestgaard, B. G., Nielsen, S. F., Tybjærg-Hansen, A., Schmidt, R. F., Kuulasmaa, K., Liu, D. J., Perola, M., Blankenberg, S., Salomaa, V., Männistö, S., Amouyel, P., Arveiler, D., Ferrieres, J., Müller-Nurasyid, M., Ferrario, M., Kee, F., Willer, C. J., Samani, N., Schunkert, H., Butterworth, A. S., Howson, J. M. M., Peloso, G. M., Stitziel, N. O., Danesh, J., Kathiresan, S., Rader, D. J., CHD Exome+ Consortium, CARDIoGRAM Exome Consortium, Global Lipids Genetics Consortium, Watson, S., Schmidt, E. M., Sengupta, S., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., Buchkovich, M. L., Mora, S., Beckmann, J. S., Bragg-Gresham, J. L., Chang, H.-Y., Demirkan, A., Den Hertog, H. M., Do, R., Donnelly, L. A., Ehret, G. B., Esko, T., Feitosa, M. F., Ferreira, T., Fischer, K., Fontanillas, P., Fraser, R. M., Freitag, D. F., Gurdasani, D., Heikkilä, K., Hyppönen, E., Isaacs, A., Jackson, A. U., Johansson, Å., Johnson, T., Kaakinen, M., Kettunen, J., Kleber, M. E., Li, X., Luan, J., Lyytikäinen, L.-P., Magnusson, P. K. E., Mangino, M., Mihailov, E., Montasser, M. E., Nolte, I. M., O’Connell, J. R., Palmer, C. D., Petersen, A.-K., Sanna, S., Saxena, R., Service, S. K., Shah, S., Shungin, D., Sidore, C., Song, C., Strawbridge, R. J., Surakka, I., Tanaka, T., Teslovich, T. M., Thorleifsson, G., Van den Herik, E. G., Voight, B. F., Volcik, K. A., Waite, L. L., Wong, A., Wu, Y., Zhang, W., Absher, D., Asiki, G., Barroso, I., Been, L. F., Bolton, J. L., Bonnycastle, L. L., Brambilla, P., Burnett, M. S., Cesana, G., Dimitriou, M., Doney, A. S. F., Döring, A., Elliott, P., Epstein, S. E., Eyjolfsson, G. I., Gigante, B., Goodarzi, M. O., Grallert, H., Gravito, M. L., Groves, C. J., Hallmans, G., Hartikainen, A.-L., Hayward, C., Hernandez, D., Hicks, A. A., Holm, H., Hung, Y.-J., Illig, T., Jones, M. R., Kaleebu, P., Kastelein, J. J. P., Khaw, K.-T., Kim, E., Klopp, N., Komulainen, P., Kumari, M., Langenberg, C., Lehtimäki, T., Lin, S.-Y., Lindström, J., Loos, R. J. F., Mach, F., McArdle, W. L., Meisinger, C., Mitchell, B. D., Müller, G., Nagaraja, R., Narisu, N., Nieminen, T. V. M., Nsubuga, R. N., Olafsson, I., Ong, K. K., Palotie, A., Papamarkou, T., Pomilla, C., Pouta, A., Reilly, M. P., Ridker, P. M., Rivadeneira, F., Rudan, I., Ruokonen, A., Scharnagl, H., Seeley, J., Silander, K., Stancáková, A., Stirrups, K., Swift, A. J., Tiret, L., Uitterlinden, A. G., van Pelt, L. J., Vedantam, S., Wainwright, N., Wijmenga, C., Wild, S. H., Willemsen, G., Wilsgaard, T., Wilson, J. F., Young, E. H., Zhao, J. H., Adair, L. S., Arveiler, D., Assimes, T. L., Bandinelli, S., Bennett, F., Bochud, M., Boehm, B. O., Boomsma, D. I., Borecki, I. B., Bornstein, S. R., Bovet, P., Burnier, M., Campbell, H., Chakravarti, A., Chambers, J. C., Chen, Y.-D. I., Collins, F. S., Cooper, R. S., Dedoussis, G., de Faire, U., Feranil, A. B., Ferrucci, L., Freimer, N. B., Gieger, C., Groop, L. C., Gudnason, V., Gyllensten, U., Hamsten, A., Harris, T. B., Hingorani, A., Hirschhorn, J. N., Hofman, A., Hovingh, G. K., Hsiung, C. A., Humphries, S. E., Hunt, S. C., Hveem, K., Iribarren, C., Järvelin, M.-R., Jula, A., Kähönen, M., Kaprio, J., Kesäniemi, A., Kivimaki, M., Kooner, J. S., Koudstaal, P. J., Krauss, R. M., Kuh, D., Kuusisto, J., Kyvik, K. O., Laakso, M., Lakka, T. A., Lind, L., Lindgren, C. M., Martin, N. G., März, W., McCarthy, M. I., McKenzie, C. A., Meneton, P., Metspalu, A., Moilanen, L., Morris, A. D., Munroe, P. B., Njølstad, I., Pedersen, N. L., Power, C., Pramstaller, P. P., Price, J. F., Psaty, B. M., Quertermous, T., Rauramaa, R., Salomaa, V., Sanghera, D. K., Saramies, J., Schwarz, P. E. H., Sheu, W. H.-H., Shuldiner, A. R., Siegbahn, A., Spector, T. D., Stefansson, K., Strachan, D. P., Tayo, B. O., Tremoli, E., Tuomilehto, J., Uusitupa, M., van Duijn, C. M., Vollenweider, P., Wallentin, L., Wareham, N. J., Whitfield, J. B., Wolffenbuttel, B. H. R., Ordovas, J. M., Boerwinkle, E., Palmer, C. N. A., Thorsteinsdottir, U., Chasman, D. I., Rotter, J. I., Franks, P. W., Riatti, S., Cupples, L. A., Sandhu, M. S., Rich, S. S., Boehnke, M., Deloukas, P., Mohlke, K. L., Ingelsson, E., Gu, D., Roberts, R., Watkins, H., Blankenberg, S., Clarke, R., Collins, R., Kim, B.-J., McPherson, R., Nieminen, M. S., O'Donnell, C., Schreiber, S., Siegbahn, A., & Zalloua, P. A.
Affiliations
  • University of Pennsylvania (US)
  • Inserm (FR)
  • University of Cambridge (GB)
  • Leiden University Medical Center (NL)
  • Department of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, Netherlands.
  • British Heart Foundation (GB)
  • University of Glasgow (GB)
  • Western Infirmary (GB)
  • National Institute of Cardiovascular Diseases (BD)
  • International Centre for Diarrhoeal Disease Research (BD)
  • Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
  • Institute for Integrative and Experimental Genomics (DE)
  • Herlev Hospital (DK)
  • Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
  • Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospitals, Copenhagen, Denmark.
  • Finnish Institute for Health and Welfare (FI)
  • Pennsylvania State University (US)
  • University of Helsinki (FI)
  • Institut Pasteur de Lille (FR)
  • Department of Epidemiology, Toulouse University-CHU Toulouse, Toulouse, France.
  • Institute of Genetic Epidemiology, Helmholtz Zentrum München–German Research Center for Environmental Health, Neuherberg, Germany.
  • Research Centre in Epidemiology and Preventive Medicine, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
  • Queen's University Belfast (GB)
  • University of Michigan (US)
  • University of Leicester (GB)
  • Deutsches Herzzentrum München (DE)
  • Broad Institute (US)
  • Washington University in St. Louis (US)
  • University of Copenhagen (DK)
  • Universität Hamburg (DE)
  • Université de Strasbourg (FR)
  • Helmholtz Munich (DE)
Corresponding author
  • Zanoni, Paolo
  • Khetarpal, Sumeet A.
  • Larach, Daniel B.
  • Rader, Daniel J.
ORCID
Venue
Science
Published
2016-03-11
Volume
351
Issue
6278
Pages
1166-1171
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2296190881
Cited by
545
References
75
Citations by year
2026: 27 · 2025: 33 · 2024: 40 · 2023: 46 · 2022: 45 · 2021: 60 · 2020: 48 · 2019: 56 · 2018: 63 · 2017: 79 · 2016: 45 · 2015: 2 · 2014: 1
FWCI
89.67
Type
journal article
Language
en
Open access
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion)
  • SERVAL (Université de Lausanne) (publishedVersion, other-oa)
  • Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, other-oa)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
  • UA Campus Repository (The University of Arizona) (acceptedVersion)
  • IrInSubria (University of Insubria) (submittedVersion)
  • IRIS (submittedVersion)
  • Pure Amsterdam UMC (submittedVersion, other-oa)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • HAL (submittedVersion)
  • Leiden Repository (Leiden University) (submittedVersion)
  • BOA (University of Milano-Bicocca) (submittedVersion)
  • Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
  • mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
  • Site cant be reached (submittedVersion)
  • Research Portal (Queen's University Belfast) (submittedVersion)
  • PuSH - Publication Server of Helmholtz Zentrum München (submittedVersion)
  • VU Research Portal (submittedVersion)
  • OPUS (Augsburg University) (submittedVersion)
  • Open Research (University of Surrey) (submittedVersion)
  • STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
  • Zurich Open Repository and Archive (University of Zurich) (submittedVersion, other-oa)
  • Zurich Open Repository and Archive (University of Zurich)
  • WOS
Funders
  • National Center for Research Resources (TL1RR024133)
  • National Center for Advancing Translational Sciences of the NIH (TL1R000138)
  • Doris Duke Charitable Foundation
Topics
  • Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
  • Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
Keywords
scavenger receptor BI, scavenger receptor class B type I, HDL cholesterol, coronary heart disease risk, loss-of-function mutations, HDL metabolism, atherosclerosis, post-translational processing, induced pluripotent stem cell-derived hepatocytes
MeSH terms
Aged, Animals, Coronary Disease, DNA Mutational Analysis, Female, Heterozygote, Homozygote, Humans, Leucine, Cholesterol, HDL, Male, Middle Aged, Proline, Protein Processing, Post-Translational, Risk, Genetic Variation, Amino Acid Substitution, Scavenger Receptors, Class B, Mice

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