Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

Affiliations

• ¹ Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
• ² Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
• ³ Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
• ⁴ Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA.
• ⁵ Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
• ⁶ Renaissance Computing Institute, Chapel Hill, NC 27517, USA.
• ⁷ Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
• ⁸ Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
• ⁹ Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA.
• ¹⁰ Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA; School of Public Health, University of Wisconsin - Milwaukee, Milwaukee, WI 53201, USA.
• ¹¹ Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.
• ¹² Wellcome Trust Centre for Human Genetics, University of Oxford, OX1 2JD Oxford, UK.
• ¹³ Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; School of Public Health, University of Wisconsin - Milwaukee, Milwaukee, WI 53201, USA; Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; Department of Genetics, Harvard Medical School, Boston, MA 02138, USA.
• ¹⁴ HUNT Research Center, Department of Public Health, Norwegian University of Science and Technology, 7600 Levanger, Norway.
• ¹⁵ The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
• ¹⁶ The Genetics of Obesity and Related Metabolic Traits Program, The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
• ¹⁷ Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
• ¹⁸ Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Computer Science, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
• ¹⁹ Department of Pathology, University of Vermont, Colchester, VT 05446, USA.
• ²⁰ Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
• ²¹ Genetic Epidemiology Unit, Department of Epidemiology, Erasmus University Medical Center, 3015 DR Rotterdam, the Netherlands.
• ²² Department of Epidemiology, Erasmus University Medical Center, 3000 DR Rotterdam, the Netherlands.
• ²³ Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
• ²⁴ Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA.
• ²⁵ Icelandic Heart Association, IS-201 Kopavogur, Iceland.
• ²⁶ Icelandic Heart Association, IS-201 Kopavogur, Iceland; University of Iceland, 101 Reykjavik, Iceland.
• ²⁷ Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN 55454, USA.
• ²⁸ Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
• ²⁹ Medical Research Center for Human Genetics, Medical Research Center Institute of Genetics and Molecular Medicine, University of Edinburgh, EH4 2XU Edinburgh, UK.
• ³⁰ Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
• ³¹ Department of Epidemiology, University of Pittsburgh, Pittsburgh, PA 15261, USA.
• ³² Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
• ³³ Division of Cardiology, George Washington School of Medicine and Health Sciences, Washington, DC 20037, USA.
• ³⁴ Departments of Epidemiology and Medicine, University of Iowa, Iowa City, IA 52242, USA.
• ³⁵ Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
• ³⁶ Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Biostatistics, University of Washington, Seattle, WA 98195, USA.
• ³⁷ Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
• ³⁸ Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA.
• ³⁹ Department of Biostatistics, University of Washington, Seattle, WA 98195, USA; Department of Statistics, University of Auckland, Auckland 1142, New Zealand.
• ⁴⁰ Division of Endocrinology, Ohio State University, Columbus, OH 43210, USA.
• ⁴¹ Department of Internal Medicine, Erasmus University Medical Center, 3000 DR Rotterdam, the Netherlands.
• ⁴² Center for Population Studies, National Heart, Lung, and Blood Institute, Framingham, MA 01702, USA; Framingham Heart Study, National Heart, Lung, and Blood Institute, Framingham, MA 01702, USA.
• ⁴³ Institute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute, and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
• ⁴⁴ Department of Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA; Tougaloo College, Jackson, MS 39174, USA; Jackson State University, Jackson, MS 39217, USA.
• ⁴⁵ Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Epidemiology, University of Washington, Seattle, WA 98195, USA; Department of Medicine, University of Washington Medical Center, Seattle, WA 98195, USA.
• ⁴⁶ Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
• ⁴⁷ Centre for Population Health Sciences, Medical School, University of Edinburgh, EH8 9YL Edinburgh, UK.
• ⁴⁸ Department of Computer and Information Science, Norwegian University of Science and Technology, 7491 Trondheim, Norway; Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, 7489 Trondheim, Norway.
• ⁴⁹ Department of Clinical Sciences, Diabetes, and Endocrinology, Lund University, Skåne University Hospital, 221 00 Malmö, Sweden; Glostrup Research Institute, Glostrup University Hospital, 2600 Glostrup, Denmark.
• ⁵⁰ Oxford Centre for Diabetes, Endocrinology, and Metabolism and Oxford National Institute for Health Research Biomedical Research Centre, University of Oxford, Churchill Hospital, OX1 2JD Oxford, UK.
• ⁵¹ Institute of Human Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 85764 Neuherberg, Germany.
• ⁵² Baylor College of Medicine, Houston, TX 77030, USA; Houston Methodist DeBakey Heart and Vascular Center, Houston, TX 77030, USA.
• ⁵³ Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA.
• ⁵⁴ Center for Population Studies, National Heart, Lung, and Blood Institute, Framingham, MA 01702, USA; Cardiology Division, Massachusetts General Hospital, Boston, MA 02114, USA.
• ⁵⁵ Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
• ⁵⁶ Department of Epidemiology, University of Washington, Seattle, WA 98195, USA.
• ⁵⁷ Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Epidemiology, University of Washington, Seattle, WA 98195, USA; Department of Medicine, University of Washington Medical Center, Seattle, WA 98195, USA; Group Health Research Institute, Group Health Cooperative, Seattle, WA 98195, USA.
• ⁵⁸ Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02138, USA.
• ⁵⁹ Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA; Cardiology Division, Massachusetts General Hospital, Boston, MA 02114, USA.
• ⁶⁰ Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
• ⁶¹ Center for Population Studies, National Heart, Lung, and Blood Institute, Framingham, MA 01702, USA; Department of Biostatistics, Boston University School of Public Health, Boston, MA 02215, USA.
• ⁶² Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
• ⁶³ Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.
• ⁶⁴ Department of Pathology, University of Vermont, Colchester, VT 05446, USA; Department of Biochemistry, University of Vermont, Burlington, VT 05405, USA.
• ⁶⁵ Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA. Electronic address: [email protected].