Rare variant contribution to the heritability of coronary artery disease.

Autor: Rocheleau G; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Center for Genomic Data Analytics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Clarke SL; Department of Medicine, Stanford Prevention Research Center, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Auguste G; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA., Hasbani NR; Department of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Morrison AC; Department of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Heath AS; Department of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Bielak LF; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Iyer KR; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Young EP; Department of Medicine, Division of Cardiology, Washington University School of Medicine, Saint Louis, MO, USA.; McDonnell Genome Institute, Washington University School of Medicine, Saint Louis, MO, USA., Stitziel NO; Department of Medicine, Division of Cardiology, Washington University School of Medicine, Saint Louis, MO, USA.; McDonnell Genome Institute, Washington University School of Medicine, Saint Louis, MO, USA.; Department of Genetics, Washington University School of Medicine, Saint Louis, MO, USA., Jun G; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Laurie C; Department of Biostatistics, University of Washington, Seattle, WA, USA., Broome JG; Department of Biostatistics, University of Washington, Seattle, WA, USA., Khan AT; Department of Biostatistics, University of Washington, Seattle, WA, USA., Arnett DK; College of Public Health, University of Kentucky, Lexington, KY, USA., Becker LC; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Bis JC; Department of Medicine, Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA., Boerwinkle E; Department of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Bowden DW; Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Carson AP; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., Ellinor PT; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Boston, MA, USA.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA., Fornage M; Department of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Franceschini N; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA., Freedman BI; Department of Internal Medicine, Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Heard-Costa NL; National Heart, Lung, and Blood Institute and Boston University's Framingham Heart Study, Framingham, MA, USA.; Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA., Hou L; Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Chen YI; Department of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Kenny EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kooperberg C; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA., Kral BG; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Science, University of Copenhagen, Copenhagen, Denmark., Lutz SM; Department of Population Medicine, Harvard Pilgrim Health Care, Boston, MA, USA., Manson JE; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Martin LW; School of Medicine and Health Sciences, George Washington University, Washington, DC, USA., Mitchell BD; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Nassir R; Department of Pathology, School of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia., Palmer ND; Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Post WS; Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Preuss MH; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Psaty BM; Department of Medicine, Cardiovascular Health Research Unit, University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Department of Health Systems and Population Health, University of Washington, Seattle, WA, USA., Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Regan EA; Department of Medicine, Division of Rheumatology, National Jewish Health, Denver, CO, USA., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA., Smith JA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.; Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, MI, USA., Taylor KD; Department of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Yanek LR; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Young KA; Department of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Hilliard AT; VA Palo Alto Health Care System, Palo Alto, CA, USA., Tcheandjieu C; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; VA Palo Alto Health Care System, Palo Alto, CA, USA.; Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, CA, USA.; Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA, USA., Peyser PA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Vasan RS; National Heart, Lung, and Blood Institute and Boston University's Framingham Heart Study, Framingham, MA, USA.; Department of Medicine, Boston University School of Medicine, Boston, MA, USA.; School of Public Health, University of Texas, San Antonio, TX, USA., Rotter JI; Department of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Miller CL; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.; Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA, USA.; Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA., Assimes TL; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; VA Palo Alto Health Care System, Palo Alto, CA, USA.; Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA., de Vries PS; Department of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Do R; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ron.do@mssm.edu.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ron.do@mssm.edu.; Center for Genomic Data Analytics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ron.do@mssm.edu.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 09; Vol. 15 (1), pp. 8741. Date of Electronic Publication: 2024 Oct 09.

Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.

Autor: de Vries PS; 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, TX, USA., Conomos MP; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Singh K; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Nicholson CJ; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Jain D; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Hasbani NR; 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, TX, USA., Jiang W; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Lee S; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Lino Cardenas CL; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Lutz SM; PRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA.; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Wong D; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Yao J; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Young EP; Cardiovascular Division, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA., Tcheandjieu C; VA Palo Alto Healthcare System, Palo Alto, CA, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Hilliard AT; VA Palo Alto Healthcare System, Palo Alto, CA, USA.; Palo Alto Veterans Institute for Research, Palo Alto, CA, USA., Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Bielak LF; School of Public Health, Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA., Brown MR; 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, TX, USA., Musharoff S; VA Palo Alto Healthcare System, Palo Alto, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Clarke SL; VA Palo Alto Healthcare System, Palo Alto, CA, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Terry JG; Department of Radiology, Vanderbilt Translational and Clinical Cardiovascular Research Center, Vanderbilt University Medical Center, Nashville, TN, USA., Palmer ND; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Yanek LR; Division of General Internal Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Xu H; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Heard-Costa N; Boston University School of Medicine, Boston, MA, USA.; Boston University and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA., Wessel J; Department of Epidemiology, Fairbanks School of Public Health, Indiana University, Indianapolis, IN, USA.; Diabetes Translational Research Center, Indiana University, Indianapolis, IN, USA., Selvaraj MS; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Li RH; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Sun X; School of Public Health and Tropical Medicine, Department of Epidemiology, Tulane University, New Orleans, LA, USA.; College of Medicine, Department of Medicine, Division of Nephrology, University of Illinois Chicago, Chicago, IL, USA., Turner AW; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA., Stilp AM; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Khan A; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Newman AB; Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA., Rasheed A; Center For Non-Communicable Diseases, Karachi, Pakistan., Freedman BI; Section on Nephrology, Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC, USA., Kral BG; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., McHugh CP; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Hodonsky C; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA., Saleheen D; Center For Non-Communicable Diseases, Karachi, Pakistan.; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Cardiology, Columbia University Irving Medical Center, New York, NY, USA., Herrington DM; Department of Internal Medicine, Section of Cardiovascular Medicine, Wake Forest School of Medicine, Winston-Salem, NC, USA., Jacobs DR Jr; Division of Epidemiology and Community Health, University of Minnesota School of Public Health, Minneapolis, MN, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Northwest Genomics Center, University of Washington, Seattle, WA, USA., Boerwinkle E; 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, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Wang FF; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Heiss G; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA., Jun G; 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, TX, USA., Kinney GL; Department of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Sigurslid HH; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hall IM; Yale Center for Genomic Health, Yale School of Medicine, New Haven, CT, USA., Bensenor IM; Center for Clinical and Epidemiological Research, University Hospital, University of Sao Paulo Medical School, São Paulo, Brazil., Broome J; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Crapo JD; Department of Medicine, National Jewish Health, Denver, CO, USA., Wilson JG; Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, MA, USA., Smith JA; School of Public Health, Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA.; Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, MI, USA., Blangero J; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.; South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA., Vargas JD; Medstar Heart and Vascular Institute, Medstar Georgetown University Hospital, Washington, DC, USA., Mosquera JV; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA., Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Northwest Genomics Center, University of Washington, Seattle, WA, USA., Viaud-Martinez KA; Illumina Laboratory Services, Illumina Inc., San Diego, CA, USA., Ryan KA; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Young KA; Department of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Lange LA; Department of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA., Emery LS; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Bittencourt MS; Center for Clinical and Epidemiological Research, University Hospital, University of Sao Paulo Medical School, São Paulo, Brazil., Budoff MJ; Department of Medicine, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Montasser ME; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Yu M; School of Public Health, Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA., Mahaney MC; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.; South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA., Mahamdeh MS; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Fornage M; 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, TX, USA.; Institute of Molecular Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA., Franceschini N; Department of Epidemiology, Gillings School of Global Public health, University of North Carolina, Chapel Hill, NC, USA., Lotufo PA; Center for Clinical and Epidemiological Research, University Hospital, University of Sao Paulo Medical School, São Paulo, Brazil., Natarajan P; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Wong Q; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Mathias RA; Division of General Internal Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Division of Allergy and Clinical Immunology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Do R; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Mehran R; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Tracy RP; Department of Pathology and Laboratory Medicine, Robert Larner, M.D. College of Medicine, University of Vermont, Burlington, VT, USA., Kim RW; Psomagen Inc., Rockville, MD, USA., Nelson SC; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Damrauer SM; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kardia SLR; School of Public Health, Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA., Rich SS; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA., Fuster V; Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain.; Mount Sinai Heart Center, New York, NY, USA., Napolioni V; Genomic And Molecular Epidemiology (GAME) Lab, School of Biosciences and Veterinary Medicine, University of Camerino, Camerino, Italy., Zhao W; School of Public Health, Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA., Tian W; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Yin X; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Min YI; Jackson Heart Study, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., Manning AK; Clinical and Translation Epidemiology Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Programs in Metabolism and Medical and Population Genetics, Broad Institute, Cambridge, MA, USA., Peloso G; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Kelly TN; College of Medicine, Department of Medicine, Division of Nephrology, University of Illinois Chicago, Chicago, IL, USA., O'Donnell CJ; VA Boston Healthcare System, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Morrison AC; 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, TX, USA., Curran JE; Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.; South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA., Zapol WM; Department of Anesthesia, Critical Care and Pain Medicine at Massachusetts General Hospital, Boston, MA, USA., Bowden DW; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA., Becker LC; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Correa A; Jackson Heart Study, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.; Department of Population Health Science, University of Mississippi Medical Center, Jackson, MS, USA., Mitchell BD; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD, USA., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Department of Health Services, University of Washington, Seattle, WA, USA., Carr JJ; Department of Radiology, Vanderbilt Translational and Clinical Cardiovascular Research Center, Vanderbilt University Medical Center, Nashville, TN, USA., Pereira AC; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of São Paulo, São Paulo, Brazil., Assimes TL; VA Palo Alto Healthcare System, Palo Alto, CA, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Stitziel NO; Cardiovascular Division, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA., Hokanson JE; Department of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Laurie CA; Genetic Analysis Center, Department of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Vasan RS; Boston University and National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Department of Medicine, Boston University School of Medicine, Boston, MA, USA.; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA., Post WS; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Peyser PA; School of Public Health, Department of Epidemiology, University of Michigan, Ann Arbor, MI, USA., Miller CL; Center for Public Health Genomics, University of Virginia School of Medicine, Charlottesville, VA, USA., Malhotra R; Cardiovascular Research Center, Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Publikováno v: Nature cardiovascular research [Nat Cardiovasc Res] 2023 Dec; Vol. 2 (12), pp. 1159-1172. Date of Electronic Publication: 2023 Dec 04.

A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies.

Autor: Li X; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Chen H; 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, TX, USA.; Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX, USA., Selvaraj MS; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Van Buren E; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Zhou H; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Wang Y; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Sun R; Department of Biostatistics, University of Texas MD Anderson Cancer Center, Houston, TX, USA., McCaw ZR; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Yu Z; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Arnett DK; Provost Office, University of South Carolina, Columbia, SC, USA., Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., Boerwinkle E; 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, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Bowden DW; Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Brody JA; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Cade BE; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.; Division of Sleep Medicine, Harvard Medical School, Boston, MA, USA., Carson AP; Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., Carlson JC; Department of Human Genetics and Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA., Chami N; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Chen YI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Curran JE; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., de Vries PS; 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, TX, USA., Fornage M; 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, TX, USA.; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, the University of Texas Health Science Center at Houston, Houston, TX, USA., Franceschini N; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Freedman BI; Department of Internal Medicine, Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Gu C; Division of Biology & Biomedical Sciences, Washington University School of Medicine, St. Louis, MO, USA., Heard-Costa NL; Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.; Framingham Heart Study, Framingham, MA, USA., He J; Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA.; Tulane University Translational Science Institute, New Orleans, LA, USA., Hou L; Department of Preventive Medicine, Northwestern University, Chicago, IL, USA., Hung YJ; Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan., Irvin MR; Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA., Kaplan RC; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA.; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA., Kardia SLR; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Kelly T; Department of Medicine, Division of Nephrology, University of Illinois Chicago, Chicago, IL, USA., Konigsberg I; Department of Biomedical Informatics, University of Colorado, Aurora, CO, USA., Kooperberg C; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA., Kral BG; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Li C; Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA.; Tulane University Translational Science Institute, New Orleans, LA, USA., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Mahaney MC; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., Martin LW; George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Mathias RA; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Minster RL; Department of Human Genetics and Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA., Mitchell BD; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Montasser ME; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Morrison AC; 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, TX, USA., Palmer ND; Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Peyser PA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.; Departments of Epidemiology, University of Washington, Seattle, WA, USA.; Department of Health Systems and Population Health, University of Washington, Seattle, WA, USA., Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Redline S; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.; Division of Sleep Medicine, Harvard Medical School, Boston, MA, USA., Reiner AP; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.; Departments of Epidemiology, University of Washington, Seattle, WA, USA., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA., Sitlani CM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Smith JA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Tiwari H; Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA., Vasan RS; Framingham Heart Study, Framingham, MA, USA.; Department of Quantitative and Qualitative Health Sciences, UT Health San Antonio School of Public Health, San Antonia, TX, USA., Wang Z; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Yanek LR; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Yu B; 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, TX, USA., Rice KM; Department of Biostatistics, University of Washington, Seattle, WA, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Peloso GM; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Natarajan P; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Li Z; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Liu Z; Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, USA., Lin X; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Department of Statistics, Harvard University, Cambridge, MA, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Nov 02. Date of Electronic Publication: 2023 Nov 02.

Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification.

Autor: Kavousi M; Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. m.kavousi@erasmusmc.nl., Bos MM; Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Barnes HJ; Cardiovascular Research Center, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Lino Cardenas CL; Cardiovascular Research Center, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Wong D; Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA, USA.; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA., Lu H; Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Hodonsky CJ; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA., Landsmeer LPL; Central Diagnostics Laboratory, Division Laboratories, Pharmacy, and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Turner AW; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA., Kho M; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.; Graduate School of Data Science, Seoul National University, Seoul, Republic of Korea., Hasbani NR; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Center at Houston, Houston, TX, USA., de Vries PS; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Center at Houston, Houston, TX, USA., Bowden DW; Department of Biochemistry, Wake Forest University Health Sciences, Winston-Salem, NC, USA., Chopade S; Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, UK.; University College London British Heart Foundation Research Accelerator Centre, London, UK., Deelen J; Biomedical Data Sciences, Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.; Max Planck Institute for Biology of Aging, Cologne, Germany., Benavente ED; Laboratory of Experimental Cardiology, Division of Heart and Lungs, University Medical Center Utrecht and Utrecht University, Utrecht, The Netherlands., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center, Torrance, CA, USA., Hofer E; Department of Neurology, Clinical Division of Neurogeriatrics, Medical University of Graz, Graz, Austria.; Institute for Medical Informatics, Statistics and Documentation, Medical University of Graz, Graz, Austria., Hwang SJ; Population Sciences, NHLBI/NIH, Framingham, MA, USA., Lutz SM; Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care, Boston, MA, USA., Lyytikäinen LP; Department of Clinical Chemistry, Fimlab Laboratories and Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland., Slenders L; Central Diagnostics Laboratory, Division Laboratories, Pharmacy, and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Smith AV; Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA.; Icelandic Heart Association, Kopavogur, Iceland., Stanislawski MA; Department of Biomedical Informatics, University of Colorado, Anschutz Medical Campus, Aurora, CO, USA., van Setten J; Department of Cardiology, Division of Heart and Lungs, University Medical Center Utrecht and Utrecht University, Utrecht, The Netherlands., Wong Q; Department of Biostatistics, University of Washington, Seattle, WA, USA., Yanek LR; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Becker DM; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Beekman M; Biomedical Data Sciences, Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands., Budoff MJ; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center, Torrance, CA, USA., Feitosa MF; Department of Genetics, Division of Statistical Genomics, Washington University School of Medicine, St. Louis, MO, USA., Finan C; Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, UK.; University College London British Heart Foundation Research Accelerator Centre, London, UK.; Department of Cardiology, Division of Heart and Lungs, University Medical Center Utrecht and Utrecht University, Utrecht, The Netherlands., Hilliard AT; VA Palo Alto Healthcare System, Palo Alto, CA, USA., Kardia SLR; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Kovacic JC; Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; St Vincent's Clinical School, University of NSW, Sydney, New South Wales, Australia.; The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York City, NY, USA., Kral BG; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Langefeld CD; Department of Biostatistical Sciences and Data Science, Wake Forest University Health Sciences, Winston-Salem, NC, USA., Launer LJ; Laboratory of Epidemiology and Population Sciences, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA., Malik S; Susan Samueli Integrative Health Institute, Department of Medicine, University of California Irvine, Irvine, CA, USA., Hoesein FAAM; Department of Radiology, University Medical Center Utrecht and Utrecht University, Utrecht, The Netherlands., Mokry M; Central Diagnostics Laboratory, Division Laboratories, Pharmacy, and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Laboratory of Experimental Cardiology, Division of Heart and Lungs, University Medical Center Utrecht and Utrecht University, Utrecht, The Netherlands., Schmidt R; Department of Neurology, Clinical Division of Neurogeriatrics, Medical University of Graz, Graz, Austria., Smith JA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.; Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, MI, USA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center, Torrance, CA, USA., Terry JG; Department of Radiology and Radiological Sciences, Vanderbilt University Medical Center, Nashville, TN, USA., van der Grond J; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands., van Meurs J; Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Vliegenthart R; Department of Radiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Xu J; Department of Biochemistry, Wake Forest University Health Sciences, Winston-Salem, NC, USA., Young KA; Department of Epidemiology, University of Colorado, Anschutz Medical Campus, Denver, CO, USA., Zilhão NR; Icelandic Heart Association, Kopavogur, Iceland., Zweiker R; Department of Internal Medicine, Division of Cardiology, Medical University of Graz, Graz, Austria., Assimes TL; VA Palo Alto Healthcare System, Palo Alto, CA, USA.; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Becker LC; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Bos D; Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Carr JJ; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Cupples LA; Department of Biostatistics, School of Public Health, Boston University, Boston, MA, USA., de Kleijn DPV; Department of Vascular Surgery, University Medical Center Utrecht and Utrecht University, Utrecht, The Netherlands., de Winther M; Department of Medical Biochemistry, Experimental Vascular Biology, Amsterdam Cardiovascular Sciences: Atherosclerosis and Ischemic syndromes, Amsterdam Infection and Immunity: Inflammatory diseases, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., den Ruijter HM; Laboratory of Experimental Cardiology, Division of Heart and Lungs, University Medical Center Utrecht and Utrecht University, Utrecht, The Netherlands., Fornage M; Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Freedman BI; Department of Internal Medicine, Wake Forest University Health Sciences, Winston-Salem, NC, USA., Gudnason V; Icelandic Heart Association, Kopavogur, Iceland.; Faculty of Medicine, School of Public Health, University of Iceland, Reykjavik, Iceland., Hingorani AD; Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, UK.; University College London British Heart Foundation Research Accelerator Centre, London, UK., Hokanson JE; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Ikram MA; Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Išgum I; Image Sciences Institute, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Biomedical Engineering and Physics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Jacobs DR Jr; Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, MN, USA., Kähönen M; Department of Clinical Physiology, Tampere University Hospital and Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland., Lange LA; Department of Biomedical Informatics, University of Colorado, Anschutz Medical Campus, Aurora, CO, USA., Lehtimäki T; Department of Clinical Chemistry, Fimlab Laboratories and Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland., Pasterkamp G; Central Diagnostics Laboratory, Division Laboratories, Pharmacy, and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Raitakari OT; Centre for Population Health Research, University of Turku and Turku University Hospital, Turku, Finland.; Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, Finland.; Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, Finland., Schmidt H; Gottfried Schatz Research Center (for Cell Signaling, Metabolism and Aging), Medical University of Graz, Graz, Austria., Slagboom PE; Biomedical Data Sciences, Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands., Uitterlinden AG; Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Vernooij MW; Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Department of Vascular Surgery, University Medical Center Utrecht and Utrecht University, Utrecht, The Netherlands., Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Franceschini N; Department of Epidemiology, University of North Carolina, Chapel Hill, NC, USA., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.; Departments of Epidemiology, and Health Systems and Population Health, University of Washington, Seattle, WA, USA., Post WS; Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center, Torrance, CA, USA., Björkegren JLM; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York City, NY, USA.; Department of Medicine, Integrated Cardio Metabolic Centre, Karolinska Institutet, Huddinge, Sweden., O'Donnell CJ; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Cardiology Section, Department of Medicine, Veterans Affairs Boston Healthcare System, Boston, MA, USA., Bielak LF; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Peyser PA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Malhotra R; Cardiovascular Research Center, Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., van der Laan SW; Central Diagnostics Laboratory, Division Laboratories, Pharmacy, and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Miller CL; Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA, USA. clintm@virginia.edu.; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA. clintm@virginia.edu.; Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA. clintm@virginia.edu.

Publikováno v: Nature genetics [Nat Genet] 2023 Oct; Vol. 55 (10), pp. 1651-1664. Date of Electronic Publication: 2023 Sep 28.

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.

Autor: Li Z; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. li@hsph.harvard.edu.; Department of Biostatistics and Health Data Science, Indiana University School of Medicine, Indianapolis, IN, USA. li@hsph.harvard.edu., Li X; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Zhou H; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Gaynor SM; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Selvaraj MS; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Arapoglou T; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Quick C; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Liu Y; School of Statistics, Southwestern University of Finance and Economics, Chengdu, China., Chen H; 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, TX, USA.; Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX, USA., Sun R; Department of Biostatistics, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Dey R; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Arnett DK; Dean's Office, University of Kentucky, College of Public Health, Lexington, KY, USA., Auer PL; Division of Biostatistics, Institute for Health & Equity and Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA., Bielak LF; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Blackwell TW; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA., Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., Boerwinkle E; 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, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Bowden DW; Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Brody JA; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Cade BE; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.; Division of Sleep Medicine, Harvard Medical School, Boston, MA, USA., Conomos MP; Department of Biostatistics, University of Washington, Seattle, WA, USA., Correa A; Jackson Heart Study, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA., Cupples LA; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.; Framingham Heart Study, National Heart, Lung, and Blood Institute and Boston University, Framingham, MA, USA., Curran JE; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., de Vries PS; 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, TX, USA., Duggirala R; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., Franceschini N; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA., Freedman BI; Department of Internal Medicine, Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Göring HHH; Department of Human Genetics and South Texas Diabetes and Obesity Institute, School of Medicine, The University of Texas Rio Grande Valley, Brownsville, TX, USA., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Kalyani RR; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Kooperberg C; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA., Kral BG; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Lange LA; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Lin BM; Department of Biostatistics, University of North Carolina, Chapel Hill, NC, USA., Manichaikul A; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA., Manning AK; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Metabolism Program, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Clinical and Translational Epidemiology Unit, Mongan Institute, Massachusetts General Hospital, Boston, MA, USA., Martin LW; Division in Cardiology, George Washington School of Medicine and Health Sciences, Washington, DC, USA., Mathias RA; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Meigs JB; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA., Mitchell BD; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.; Geriatrics Research and Education Clinical Center, Baltimore VA Medical Center, Baltimore, MD, USA., Montasser ME; Division of Endocrinology, Diabetes, and Nutrition, Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Morrison AC; 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, TX, USA., Naseri T; Ministry of Health, Government of Samoa, Apia, Samoa., O'Connell JR; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Palmer ND; Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA., Peyser PA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Departments of Health Systems and Population Health, University of Washington, Seattle, WA, USA., Raffield LM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Redline S; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.; Division of Sleep Medicine, Harvard Medical School, Boston, MA, USA.; Division of Pulmonary, Critical Care, and Sleep Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA., Reiner AP; Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA., Reupena MS; Lutia I Puava Ae Mapu I Fagalele, Apia, Samoa., Rice KM; Department of Biostatistics, University of Washington, Seattle, WA, USA., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA., Smith JA; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.; Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, MI, USA., Taylor KD; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Taub MA; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Vasan RS; Framingham Heart Study, National Heart, Lung, and Blood Institute and Boston University, Framingham, MA, USA.; Department of Medicine, Boston University School of Medicine, Boston, MA, USA., Weeks DE; Department of Human Genetics and Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA., Wilson JG; Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, MA, USA., Yanek LR; GeneSTAR Research Program, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Zhao W; Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA., Willer CJ; Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Natarajan P; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Peloso GM; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.; Framingham Heart Study, National Heart, Lung, and Blood Institute and Boston University, Framingham, MA, USA., Lin X; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. xlin@hsph.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. xlin@hsph.harvard.edu.; Department of Statistics, Harvard University, Cambridge, MA, USA. xlin@hsph.harvard.edu.

Publikováno v: Nature methods [Nat Methods] 2022 Dec; Vol. 19 (12), pp. 1599-1611. Date of Electronic Publication: 2022 Oct 27.