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Liu DJ, Peloso GM, Yu H, et al. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017;49(12):1758-1766doi: 10.1038/ng.3977.
Liu, D. J., Peloso, G. M., Yu, H., Butterworth, A. S., Wang, X., Mahajan, A., Saleheen, D., Emdin, C., Alam, D., Alves, A. C., Amouyel, P., Di Angelantonio, E., Arveiler, D., Assimes, T. L., Auer, P. L., Baber, U., Ballantyne, C. M., Bang, L. E., Benn, M., Bis, J. C., Boehnke, M., Boerwinkle, E., Bork-Jensen, J., Bottinger, E. P., Brandslund, I., Brown, M., Busonero, F., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Chen, Y. E., Chen, Y. I., Chowdhury, R., Christensen, C., Chu, A. Y., Connell, J. M., Cucca, F., Cupples, L. A., Damrauer, S. M., Davies, G., Deary, I. J., Dedoussis, G., Denny, J. C., Dominiczak, A., Dubé, M. P., Ebeling, T., Eiriksdottir, G., Esko, T., Farmaki, A. E., Feitosa, M. F., Ferrario, M., Ferrieres, J., Ford, I., Fornage, M., Franks, P. W., Frayling, T. M., Frikke-Schmidt, R., Fritsche, L. G., Frossard, P., Fuster, V., Ganesh, S. K., Gao, W., Garcia, M. E., Gieger, C., Giulianini, F., Goodarzi, M. O., Grallert, H., Grarup, N., Groop, L., Grove, M. L., Gudnason, V., Hansen, T., Harris, T. B., Hayward, C., Hirschhorn, J. N., Holmen, O. L., Huffman, J., Huo, Y., Hveem, K., Jabeen, S., Jackson, A. U., Jakobsdottir, J., Jarvelin, M. R., Jensen, G. B., Jørgensen, M. E., Jukema, J. W., Justesen, J. M., Kamstrup, P. R., Kanoni, S., Karpe, F., Kee, F., Khera, A. V., Klarin, D., Koistinen, H. A., Kooner, J. S., Kooperberg, C., Kuulasmaa, K., Kuusisto, J., Laakso, M., Lakka, T., Langenberg, C., Langsted, A., Launer, L. J., Lauritzen, T., Liewald, D. C. M., Lin, L. A., Linneberg, A., Loos, R. J. F., Lu, Y., Lu, X., Mägi, R., Malarstig, A., Manichaikul, A., Manning, A. K., Mäntyselkä, P., Marouli, E., Masca, N. G. D., Maschio, A., Meigs, J. B., Melander, O., Metspalu, A., Morris, A. P., Morrison, A. C., Mulas, A., Müller-Nurasyid, M., Munroe, P. B., Neville, M. J., Nielsen, J. B., Nielsen, S. F., Nordestgaard, B. G., Ordovas, J. M., Mehran, R., O'Donnell, C. J., Orho-Melander, M., Molony, C. M., Muntendam, P., Padmanabhan, S., Palmer, C. N. A., Pasko, D., Patel, A. P., Pedersen, O., Perola, M., Peters, A., Pisinger, C., Pistis, G., Polasek, O., Poulter, N., Psaty, B. M., Rader, D. J., Rasheed, A., Rauramaa, R., Reilly, D. F., Reiner, A. P., Renström, F., Rich, S. S., Ridker, P. M., Rioux, J. D., Robertson, N. R., Roden, D. M., Rotter, J. I., Rudan, I., Salomaa, V., Samani, N. J., Sanna, S., Sattar, N., Schmidt, E. M., Scott, R. A., Sever, P., Sevilla, R. S., Shaffer, C. M., Sim, X., Sivapalaratnam, S., Small, K. S., Smith, A. V., Smith, B. H., Somayajula, S., Southam, L., Spector, T. D., Speliotes, E. K., Starr, J. M., Stirrups, K. E., Stitziel, N., Strauch, K., Stringham, H. M., Surendran, P., Tada, H., Tall, A. R., Tang, H., Tardif, J. C., Taylor, K. D., Trompet, S., Tsao, P. S., Tuomilehto, J., Tybjaerg-Hansen, A., van Zuydam, N. R., Varbo, A., Varga, T. V., Virtamo, J., Waldenberger, M., Wang, N., Wareham, N. J., Warren, H. R., Weeke, P. E., Weinstock, J., Wessel, J., Wilson, J. G., Wilson, P. W. F., Xu, M., Yaghootkar, H., Young, R., Zeggini, E., Zhang, H., Zheng, N. S., Zhang, W., Zhang, Y., Zhou, W., Zhou, Y., Zoledziewska, M., Howson, J. M. M., Danesh, J., McCarthy, M. I., Cowan, C. A., Abecasis, G., Deloukas, P., Musunuru, K., Willer, C. J., & Kathiresan, S. (2017). Exome-wide association study of plasma lipids in >300,000 individuals. Nature genetics, 49(12), 1758-1766. https://doi.org/10.1038/ng.3977
Liu, Dajiang J, et al. "Exome-wide association study of plasma lipids in >300,000 individuals." Nature genetics vol. 49,12 (2017): 1758-1766. doi: https://doi.org/10.1038/ng.3977
Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C, Alam D, Alves AC, Amouyel P, Di Angelantonio E, Arveiler D, Assimes TL, Auer PL, Baber U, Ballantyne CM, Bang LE, Benn M, Bis JC, Boehnke M, Boerwinkle E, Bork-Jensen J, Bottinger EP, Brandslund I, Brown M, Busonero F, Caulfield MJ, Chambers JC, Chasman DI, Chen YE, Chen YI, Chowdhury R, Christensen C, Chu AY, Connell JM, Cucca F, Cupples LA, Damrauer SM, Davies G, Deary IJ, Dedoussis G, Denny JC, Dominiczak A, Dubé MP, Ebeling T, Eiriksdottir G, Esko T, Farmaki AE, Feitosa MF, Ferrario M, Ferrieres J, Ford I, Fornage M, Franks PW, Frayling TM, Frikke-Schmidt R, Fritsche LG, Frossard P, Fuster V, Ganesh SK, Gao W, Garcia ME, Gieger C, Giulianini F, Goodarzi MO, Grallert H, Grarup N, Groop L, Grove ML, Gudnason V, Hansen T, Harris TB, Hayward C, Hirschhorn JN, Holmen OL, Huffman J, Huo Y, Hveem K, Jabeen S, Jackson AU, Jakobsdottir J, Jarvelin MR, Jensen GB, Jørgensen ME, Jukema JW, Justesen JM, Kamstrup PR, Kanoni S, Karpe F, Kee F, Khera AV, Klarin D, Koistinen HA, Kooner JS, Kooperberg C, Kuulasmaa K, Kuusisto J, Laakso M, Lakka T, Langenberg C, Langsted A, Launer LJ, Lauritzen T, Liewald DCM, Lin LA, Linneberg A, Loos RJF, Lu Y, Lu X, Mägi R, Malarstig A, Manichaikul A, Manning AK, Mäntyselkä P, Marouli E, Masca NGD, Maschio A, Meigs JB, Melander O, Metspalu A, Morris AP, Morrison AC, Mulas A, Müller-Nurasyid M, Munroe PB, Neville MJ, Nielsen JB, Nielsen SF, Nordestgaard BG, Ordovas JM, Mehran R, O'Donnell CJ, Orho-Melander M, Molony CM, Muntendam P, Padmanabhan S, Palmer CNA, Pasko D, Patel AP, Pedersen O, Perola M, Peters A, Pisinger C, Pistis G, Polasek O, Poulter N, Psaty BM, Rader DJ, Rasheed A, Rauramaa R, Reilly DF, Reiner AP, Renström F, Rich SS, Ridker PM, Rioux JD, Robertson NR, Roden DM, Rotter JI, Rudan I, Salomaa V, Samani NJ, Sanna S, Sattar N, Schmidt EM, Scott RA, Sever P, Sevilla RS, Shaffer CM, Sim X, Sivapalaratnam S, Small KS, Smith AV, Smith BH, Somayajula S, Southam L, Spector TD, Speliotes EK, Starr JM, Stirrups KE, Stitziel N, Strauch K, Stringham HM, Surendran P, Tada H, Tall AR, Tang H, Tardif JC, Taylor KD, Trompet S, Tsao PS, Tuomilehto J, Tybjaerg-Hansen A, van Zuydam NR, Varbo A, Varga TV, Virtamo J, Waldenberger M, Wang N, Wareham NJ, Warren HR, Weeke PE, Weinstock J, Wessel J, Wilson JG, Wilson PWF, Xu M, Yaghootkar H, Young R, Zeggini E, Zhang H, Zheng NS, Zhang W, Zhang Y, Zhou W, Zhou Y, Zoledziewska M, Howson JMM, Danesh J, McCarthy MI, Cowan CA, Abecasis G, Deloukas P, Musunuru K, Willer CJ, Kathiresan S. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 Dec;49(12):1758-1766. doi: 10.1038/ng.3977. Epub 2017 Oct 30. PMID: 29083408; PMCID: PMC5709146.
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Nat Genet. 2017 Dec;49(12):1758-1766. doi: 10.1038/ng.3977. Epub 2017 Oct 30.

Exome-wide association study of plasma lipids in >300,000 individuals.

Nature genetics

Dajiang J Liu, Gina M Peloso, Haojie Yu, Adam S Butterworth, Xiao Wang, Anubha Mahajan, Danish Saleheen, Connor Emdin, Dewan Alam, Alexessander Couto Alves, Philippe Amouyel, Emanuele Di Angelantonio, Dominique Arveiler, Themistocles L Assimes, Paul L Auer, Usman Baber, Christie M Ballantyne, Lia E Bang, Marianne Benn, Joshua C Bis, Michael Boehnke, Eric Boerwinkle, Jette Bork-Jensen, Erwin P Bottinger, Ivan Brandslund, Morris Brown, Fabio Busonero, Mark J Caulfield, John C Chambers, Daniel I Chasman, Y Eugene Chen, Yii-Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, John M Connell, Francesco Cucca, L Adrienne Cupples, Scott M Damrauer, Gail Davies, Ian J Deary, George Dedoussis, Joshua C Denny, Anna Dominiczak, Marie-Pierre Dubé, Tapani Ebeling, Gudny Eiriksdottir, Tõnu Esko, Aliki-Eleni Farmaki, Mary F Feitosa, Marco Ferrario, Jean Ferrieres, Ian Ford, Myriam Fornage, Paul W Franks, Timothy M Frayling, Ruth Frikke-Schmidt, Lars G Fritsche, Philippe Frossard, Valentin Fuster, Santhi K Ganesh, Wei Gao, Melissa E Garcia, Christian Gieger, Franco Giulianini, Mark O Goodarzi, Harald Grallert, Niels Grarup, Leif Groop, Megan L Grove, Vilmundur Gudnason, Torben Hansen, Tamara B Harris, Caroline Hayward, Joel N Hirschhorn, Oddgeir L Holmen, Jennifer Huffman, Yong Huo, Kristian Hveem, Sehrish Jabeen, Anne U Jackson, Johanna Jakobsdottir, Marjo-Riitta Jarvelin, Gorm B Jensen, Marit E Jørgensen, J Wouter Jukema, Johanne M Justesen, Pia R Kamstrup, Stavroula Kanoni, Fredrik Karpe, Frank Kee, Amit V Khera, Derek Klarin, Heikki A Koistinen, Jaspal S Kooner, Charles Kooperberg, Kari Kuulasmaa, Johanna Kuusisto, Markku Laakso, Timo Lakka, Claudia Langenberg, Anne Langsted, Lenore J Launer, Torsten Lauritzen, David C M Liewald, Li An Lin, Allan Linneberg, Ruth J F Loos, Yingchang Lu, Xiangfeng Lu, Reedik Mägi, Anders Malarstig, Ani Manichaikul, Alisa K Manning, Pekka Mäntyselkä, Eirini Marouli, Nicholas G D Masca, Andrea Maschio, James B Meigs, Olle Melander, Andres Metspalu, Andrew P Morris, Alanna C Morrison, Antonella Mulas, Martina Müller-Nurasyid, Patricia B Munroe, Matt J Neville, Jonas B Nielsen, Sune F Nielsen, Børge G Nordestgaard, Jose M Ordovas, Roxana Mehran, Christoper J O'Donnell, Marju Orho-Melander, Cliona M Molony, Pieter Muntendam, Sandosh Padmanabhan, Colin N A Palmer, Dorota Pasko, Aniruddh P Patel, Oluf Pedersen, Markus Perola, Annette Peters, Charlotta Pisinger, Giorgio Pistis, Ozren Polasek, Neil Poulter, Bruce M Psaty, Daniel J Rader, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Alex P Reiner, Frida Renström, Stephen S Rich, Paul M Ridker, John D Rioux, Neil R Robertson, Dan M Roden, Jerome I Rotter, Igor Rudan, Veikko Salomaa, Nilesh J Samani, Serena Sanna, Naveed Sattar, Ellen M Schmidt, Robert A Scott, Peter Sever, Raquel S Sevilla, Christian M Shaffer, Xueling Sim, Suthesh Sivapalaratnam, Kerrin S Small, Albert V Smith, Blair H Smith, Sangeetha Somayajula, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Kathleen E Stirrups, Nathan Stitziel, Konstantin Strauch, Heather M Stringham, Praveen Surendran, Hayato Tada, Alan R Tall, Hua Tang, Jean-Claude Tardif, Kent D Taylor, Stella Trompet, Philip S Tsao, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Natalie R van Zuydam, Anette Varbo, Tibor V Varga, Jarmo Virtamo, Melanie Waldenberger, Nan Wang, Nick J Wareham, Helen R Warren, Peter E Weeke, Joshua Weinstock, Jennifer Wessel, James G Wilson, Peter W F Wilson, Ming Xu, Hanieh Yaghootkar, Robin Young, Eleftheria Zeggini, He Zhang, Neil S Zheng, Weihua Zhang, Yan Zhang, Wei Zhou, Yanhua Zhou, Magdalena Zoledziewska, Joanna M M Howson, John Danesh, Mark I McCarthy, Chad A Cowan, Goncalo Abecasis, Panos Deloukas, Kiran Musunuru, Cristen J Willer, Sekar Kathiresan

Affiliations

  1. Department of Public Health Sciences, Institute of Personalized Medicine, Penn State College of Medicine, Hershey, Pennsylvania, USA.
  2. Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
  3. Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
  4. Department of Stem Cell and Regenerative Biology, Harvard Stem Cell Institute, Harvard University, Cambridge, Massachusetts, USA.
  5. MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  6. The National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics at the University of Cambridge, Cambridge, UK.
  7. Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  8. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  9. Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  10. Center for Non-Communicable Diseases, Karachi, Pakistan.
  11. Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
  12. ICDDR, B, Dhaka, Bangladesh.
  13. Imperial College London, London, UK.
  14. Université Lille, INSERM, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE-Risk Factors and Molecular Determinants of Aging-related Diseases, Lille, France.
  15. Department of Epidemiology and Public Health, EA 3430, University of Strasbourg, Strasbourg, France.
  16. VA Palo Alto Health Care System, Palo Alto, California, USA.
  17. Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
  18. Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin, USA.
  19. Cardiovascular Institute, Mount Sinai Medical Center, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  20. Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
  21. Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  22. Department of Clinical Biochemistry, Rigshospitalet, Copenhagen, Denmark.
  23. Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  24. Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, USA.
  25. Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan, USA.
  26. Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
  27. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  28. The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  29. The Charles Bronfman Institute for Personalized Medicine, Ichan School of Medicine at Mount Sinai, New York, New York, USA.
  30. Department of Clinical Biochemistry, Lillebaelt Hospital, Vejle, Denmark.
  31. Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  32. Clinical Pharmacology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  33. Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.
  34. The Barts Heart Centre, William Harvey Research Institute, Queen Mary University of London, London, UK.
  35. NIHR Barts Cardiovascular Biomedical Research Unit, Queen Mary University of London, London, UK.
  36. Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
  37. Department of Cardiology, Ealing Hospital NHS Trust, Southall, UK.
  38. Imperial College Healthcare NHS Trust, London, UK.
  39. Division of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
  40. Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
  41. Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, Michigan, USA.
  42. The Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Departments of Pediatrics and Medicine, Los Angeles, California, USA.
  43. Medical Department, Lillebaelt Hospital, Vejle, Denmark.
  44. NHLBI Framingham Heart Study, Framingham, Massachusetts, USA.
  45. Medical Research Institute, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.
  46. Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.
  47. Corporal Michael Crescenz VA Medical Center, Philadelphia, Pennsylvania, USA.
  48. Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  49. Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.
  50. Department of Psychology, University of Edinburgh, Edinburgh, UK.
  51. Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens, Greece.
  52. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  53. Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  54. British Heart Foundation Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
  55. Montreal Heart Institute, Montreal, Quebec, Canada.
  56. Université de Montréal Beaulieu-Saucier Pharmacogenomics Center, Montreal, Quebec, Canada.
  57. Université de Montréal, Montreal, Quebec, Canada.
  58. Department of Medicine, Oulu University Hospital and University of Oulu, Oulu, Finland.
  59. The Icelandic Heart Association, Kopavogur, Iceland.
  60. Estonian Genome Center, University of Tartu, Tartu, Estonia.
  61. Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.
  62. Research Centre in Epidemiology and Preventive Medicine-EPIMED, Department of Medicine and Surgery, University of Insubria, Varese, Italy.
  63. Department of Epidemiology, UMR 1027-INSERM, Toulouse University-CHU Toulouse, Toulouse, France.
  64. Robertson Centre for Biostatistics, University of Glasgow, Glasgow, UK.
  65. Institute of Molecular Medicine, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
  66. Department of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Lund University, Malmö, Sweden.
  67. Department of Public Health & Clinical Medicine, Umeå University, Umeå, Sweden.
  68. Department of Nutrition, Harvard T. H. Chan School of Public Health, Boston, Massachusetts, USA.
  69. Genetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK.
  70. Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), Madrid, Spain.
  71. Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  72. Department of Cardiology, Peking University Third Hospital, Key Laboratory of Cardiovascular Molecular Biology and Regulatory Peptides, Ministry of Health, Beijing, China.
  73. National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA.
  74. German Center for Diabetes Research (DZD e.V.), Neuherberg, Germany.
  75. Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  76. Institute of Epidemiology II, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
  77. Departments of Medicine and of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California, USA.
  78. Division of Endocrinology, Diabetes and Metabolism, Cedars-Sinai Medical Center, Los Angeles, California, USA.
  79. Department of Clinical Sciences, Diabetes and Endocrinology, Clinical Research Centre, Lund University, Malmö, Sweden.
  80. Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  81. Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
  82. Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Bethesda, Maryland, USA.
  83. Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
  84. Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  85. Department of Public Health and General Practice, HUNT Research Centre, Norwegian University of Science and Technology, Levanger, Norway.
  86. St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.
  87. Department of Cardiology, Peking University First Hospital, Beijing, China.
  88. K. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
  89. Department of Health Sciences, University of Iceland, Reykjavik, Iceland.
  90. The Copenhagen City Heart Study, Frederiksberg Hospital, Copenhagen, Denmark.
  91. Steno Diabetes Center, Gentofte, Denmark.
  92. National Institute of Public Health, Southern Denmark University, Copenhagen, Denmark.
  93. Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands.
  94. The Interuniversity Cardiology Institute of the Netherlands, Utrecht, the Netherlands.
  95. Department of Clinical Biochemistry and the Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
  96. William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  97. Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
  98. Oxford NIHR Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK.
  99. UKCRC Centre of Excellence for Public Health, Queens University, Belfast, UK.
  100. Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, Massachusetts, USA.
  101. Department of Health, National Institute for Health and Welfare, Helsinki, Finland.
  102. Department of Medicine and Abdominal Center: Endocrinology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
  103. Minerva Foundation Institute for Medical Research, Helsinki, Finland.
  104. National Heart and Lung Institute, Imperial College London, Hammersmith Hospital, London, UK.
  105. Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
  106. Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
  107. Department of Physiology, Institute of Biomedicine, University of Eastern Finland, Kuopio Campus, Kuopio, Finland.
  108. Kuopio Research Institute of Exercise Medicine, Kuopio, Finland.
  109. Department of Clinical Physiology and Nuclear Medicine, Kuopio University Hospital, Kuopio, Finland.
  110. MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK.
  111. Faculty of Health and Medical Sciences, University of Denmark, Copenhagen, Denmark.
  112. Department of Public Health, Section of General Practice, University of Aarhus, Aarhus, Denmark.
  113. Department of Clinical Experimental Research, Rigshospitalet, Glostrup, Denmark.
  114. Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  115. Research Center for Prevention and Health, Copenhagen, Denmark.
  116. The Mindich Child Health and Development Institute, Ichan School of Medicine at Mount Sinai, New York, New York, USA.
  117. State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  118. Cardiovascular Genetics and Genomics Group, Cardiovascular Medicine Unit, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden.
  119. Pharmatherapeutics Clinical Research, Pfizer Worldwide R&D, Sollentuna, Sweden.
  120. Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA.
  121. Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
  122. Unit of Primary Health Care, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.
  123. Department of Cardiovascular Sciences, University of Leicester, Leicester, UK.
  124. NIHR Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, UK.
  125. Division of General Internal Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
  126. Department of Clinical Sciences, University Hospital Malmo Clinical Research Center, Lund University, Malmo, Sweden.
  127. Department of Biostatistics, University of Liverpool, Liverpool, UK.
  128. Department of Medicine I, Ludwig-Maximilians-University, Munich, Germany.
  129. DZHK German Centre for Cardiovascular Research, Munich Heart Alliance, Munich, Germany.
  130. Department of Cardiovascular Epidemiology and Population Genetics, National Center for Cardiovascular Investigation, Madrid, Spain.
  131. IMDEA-Alimentacion, Madrid, Spain.
  132. Nutrition and Genomics Laboratory, Jean Mayer-USDA Human Nutrition Research Center on Aging at Tufts University, Boston, Massachusetts, USA.
  133. Genetics, Merck Sharp & Dohme Corporation, Kenilworth, New Jersey, USA.
  134. G3 Pharmaceuticals, Lexington, Massachusetts, USA.
  135. Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA.
  136. Institute of Molecular Medicine FIMM, University of Helsinki, Finland.
  137. Faculty of Medicine, University of Split, Split, Croatia.
  138. Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
  139. International Centre for Circulatory Health, Imperial College London, London, UK.
  140. Kaiser Permanente Washington Health Research Institute, Seattle, Washington, USA.
  141. Departments of Epidemiology and Health Services, University of Washington, Seattle, Washington, USA.
  142. Departments of Genetics, Medicine, and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  143. Department of Epidemiology, University of Washington, Seattle, Washington, USA.
  144. Department of Biobank Research, Umeå University, Umeå, Sweden.
  145. Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.
  146. Imaging, Merck Sharp & Dohme Corporation, Kenilworth, New Jersey, USA.
  147. Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
  148. Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
  149. Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
  150. Division of Population Health Sciences, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.
  151. Generation Scotland, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK.
  152. Scientific Informatics, Merck Sharp & Dohme Corporation, Kenilworth, New Jersey, USA.
  153. Wellcome Trust Sanger Institute, Genome Campus, Hinxton, UK.
  154. Department of Internal Medicine, Division of Gastroenterology, University of Michigan, Ann Arbor, Michigan, USA.
  155. Alzheimer Scotland Dementia Research Centre, University of Edinburgh, Edinburgh, UK.
  156. Department of Haematology, University of Cambridge, Cambridge, UK.
  157. Cardiovascular Division, Departments of Medicine and Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.
  158. The McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.
  159. IBE, Faculty of Medicine, Ludwig-Maximilians-Universität Munich, Germany.
  160. Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  161. Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Kanazawa, Japan.
  162. Department of Medicine, Division of Molecular Medicine, Columbia University, New York, New York, USA.
  163. Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
  164. Department of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, the Netherlands.
  165. Chronic Disease Prevention Unit, National Institute for Health and Welfare, Helsinki, Finland.
  166. Dasman Diabetes Institute, Dasman, Kuwait.
  167. Centre for Vascular Prevention, Danube-University Krems, Krems, Austria.
  168. Saudi Diabetes Research Group, King Abdulaziz University, Fahd Medical Research Center, Jeddah, Saudi Arabia.
  169. The Heart Centre, Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  170. Department of Epidemiology, Indiana University Fairbanks School of Public Health, Indianapolis, Indiana, USA.
  171. Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  172. Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  173. Atlanta VA Medical Center, Decatur, Georgia, USA.
  174. Emory Clinical Cardiovascular Research Institute, Atlanta, Georgia, USA.
  175. Department of Cardiology, Institute of Vascular Medicine, Peking University Third Hospital, Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education, Beijing, China.
  176. Yale College, Yale University, New Haven, Connecticut, USA.
  177. Center for Regenerative Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
  178. Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders (PACER-HD), King Abdulaziz University, Jeddah, Saudi Arabia.

PMID: 29083408 PMCID: PMC5709146 DOI: 10.1038/ng.3977

Abstract

We screened variants on an exome-focused genotyping array in >300,000 participants (replication in >280,000 participants) and identified 444 independent variants in 250 loci significantly associated with total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C), low-density-lipoprotein cholesterol (LDL-C), and/or triglycerides (TG). At two loci (JAK2 and A1CF), experimental analysis in mice showed lipid changes consistent with the human data. We also found that: (i) beta-thalassemia trait carriers displayed lower TC and were protected from coronary artery disease (CAD); (ii) excluding the CETP locus, there was not a predictable relationship between plasma HDL-C and risk for age-related macular degeneration; (iii) only some mechanisms of lowering LDL-C appeared to increase risk for type 2 diabetes (T2D); and (iv) TG-lowering alleles involved in hepatic production of TG-rich lipoproteins (TM6SF2 and PNPLA3) tracked with higher liver fat, higher risk for T2D, and lower risk for CAD, whereas TG-lowering alleles involved in peripheral lipolysis (LPL and ANGPTL4) had no effect on liver fat but decreased risks for both T2D and CAD.

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