Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.

Circulation(2023)

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HomeCirculationVol. 147, No. 20Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease No AccessLetterRequest AccessFull TextAboutView Full TextView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toNo AccessLetterRequest AccessFull TextAssociation of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease Yiyi Zhang, Jacqueline S. Dron, Brandon K. Bellows, Amit V. Khera, Junxiu Liu, Pallavi P. Balte, Elizabeth C. Oelsner, Sami Samir Amr, Matthew S. Lebo, Anna Nagy, Gina M. Peloso, Pradeep Natarajan, Jerome I. Rotter, Cristen Willer, Eric Boerwinkle, Christie M. Ballantyne, Pamela L. Lutsey, Myriam Fornage, Donald M. Lloyd-Jones, Lifang Hou, Bruce M. Psaty, Joshua C. Bis, James S. Floyd, Ramachandran S. Vasan, Nancy L. Heard-Costa, April P. Carson, Michael E. Hall, Stephen S. Rich, Xiuqing Guo, Dhruv S. Kazi, Sarah D. de Ferranti and Andrew E. Moran Yiyi ZhangYiyi Zhang Correspondence to: Yiyi Zhang, PhD, Columbia University Medical Center, Division of General Medicine, 622 West 168th St, PH9-109A, New York, NY 10032. Email E-mail Address: [email protected] https://orcid.org/0000-0002-8663-5001 Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.). Search for more papers by this author , Jacqueline S. DronJacqueline S. Dron https://orcid.org/0000-0002-3045-6530 Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (J.S.D., A.V.K., P.N.). Center for Genomic Medicine (J.S.D., A.V.K.), Massachusetts General Hospital, Boston. Search for more papers by this author , Brandon K. BellowsBrandon K. Bellows https://orcid.org/0000-0003-1395-6047 Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.). Search for more papers by this author , Amit V. KheraAmit V. Khera https://orcid.org/0000-0001-6535-5839 Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (J.S.D., A.V.K., P.N.). Center for Genomic Medicine (J.S.D., A.V.K.), Massachusetts General Hospital, Boston. Departments of Medicine (A.V.K., P.N., D.S.K.), Harvard Medical School, Boston, MA. Search for more papers by this author , Junxiu LiuJunxiu Liu Department of Population Health Science and Policy, Icahn School of Medicine, Mount Sinai, New York, NY (J.L.). Search for more papers by this author , Pallavi P. BaltePallavi P. Balte https://orcid.org/0000-0001-5610-3744 Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.). Search for more papers by this author , Elizabeth C. OelsnerElizabeth C. Oelsner Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.). Search for more papers by this author , Sami Samir AmrSami Samir Amr Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA (S.S.A., M.S.L.). Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, MA (S.S.A., M.S.L., A.N.). Search for more papers by this author , Matthew S. LeboMatthew S. Lebo Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA (S.S.A., M.S.L.). Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, MA (S.S.A., M.S.L., A.N.). Search for more papers by this author , Anna NagyAnna Nagy Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, MA (S.S.A., M.S.L., A.N.). Search for more papers by this author , Gina M. PelosoGina M. Peloso https://orcid.org/0000-0002-5355-8636 Department of Biostatistics, Boston University School of Public Health, MA (G.M.P.). Search for more papers by this author , Pradeep NatarajanPradeep Natarajan https://orcid.org/0000-0001-8402-7435 Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (J.S.D., A.V.K., P.N.). Center for Genomic Medicine (J.S.D., A.V.K.), Massachusetts General Hospital, Boston. Department of Medicine (P.N.), Massachusetts General Hospital, Boston. Departments of Medicine (A.V.K., P.N., D.S.K.), Harvard Medical School, Boston, MA. Search for more papers by this author , Jerome I. RotterJerome I. Rotter https://orcid.org/0000-0001-7191-1723 Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA (J.I.R., X.G.). Search for more papers by this author , Cristen WillerCristen Willer https://orcid.org/0000-0001-5645-4966 Departments of Internal Medicine, Human Genetics, and Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor (C.W.). Search for more papers by this author , Eric BoerwinkleEric Boerwinkle https://orcid.org/0000-0001-8813-0544 Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health (E.B.), University of Texas Health Science Center at Houston. Search for more papers by this author , Christie M. BallantyneChristie M. Ballantyne https://orcid.org/0000-0002-6432-1730 Department of Medicine, Baylor College of Medicine, Houston, TX (C.M.B.). Search for more papers by this author , Pamela L. LutseyPamela L. Lutsey https://orcid.org/0000-0002-1572-1340 Division of Epidemiology & Community Health, School of Public Health, University of Minnesota, Minneapolis (P.L.L.). Search for more papers by this author , Myriam FornageMyriam Fornage https://orcid.org/0000-0003-0677-8158 Brown Foundation Institute of Molecular Medicine (M.F.), University of Texas Health Science Center at Houston. Search for more papers by this author , Donald M. Lloyd-JonesDonald M. Lloyd-Jones https://orcid.org/0000-0003-0847-6110 Northwestern University, Chicago, IL (D.M.L.-J., L.H.). Search for more papers by this author , Lifang HouLifang Hou https://orcid.org/0000-0003-4877-0031 Northwestern University, Chicago, IL (D.M.L.-J., L.H.). Search for more papers by this author , Bruce M. PsatyBruce M. Psaty https://orcid.org/0000-0002-7278-2190 Cardiovascular Health Research Unit, Department of Medicine (B.M.P., J.C.B., J.S.F.), University of Washington, Seattle. Epidemiology (B.M.P., J.S.F.), University of Washington, Seattle. Health Systems and Population Health (B.M.P.), University of Washington, Seattle. Search for more papers by this author , Joshua C. BisJoshua C. Bis https://orcid.org/0000-0002-3409-1110 Cardiovascular Health Research Unit, Department of Medicine (B.M.P., J.C.B., J.S.F.), University of Washington, Seattle. Search for more papers by this author , James S. FloydJames S. Floyd Cardiovascular Health Research Unit, Department of Medicine (B.M.P., J.C.B., J.S.F.), University of Washington, Seattle. Epidemiology (B.M.P., J.S.F.), University of Washington, Seattle. Search for more papers by this author , Ramachandran S. VasanRamachandran S. Vasan https://orcid.org/0000-0001-7357-5970 The Framingham Heart Study, MA (R.S.V.). Sections of Preventive Medicine and Epidemiology and Cardiology, Department of Medicine, and Department of Epidemiology, Boston University Schools of Medicine and Public Health, and Center for Computing and Data Sciences, Boston University, MA (R.S.V.). Search for more papers by this author , Nancy L. Heard-CostaNancy L. Heard-Costa Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, MA (N.L.H.-C.). Search for more papers by this author , April P. CarsonApril P. Carson https://orcid.org/0000-0002-7970-6756 Department of Medicine, University of Mississippi Medical Center, Jackson (A.P.C., M.E.H.). Search for more papers by this author , Michael E. HallMichael E. Hall https://orcid.org/0000-0002-5733-1025 Department of Medicine, University of Mississippi Medical Center, Jackson (A.P.C., M.E.H.). Search for more papers by this author , Stephen S. RichStephen S. Rich https://orcid.org/0000-0003-3872-7793 Center for Public Health Genomics, University of Virginia, Charlottesville (S.S.R.). Search for more papers by this author , Xiuqing GuoXiuqing Guo https://orcid.org/0000-0002-5264-5068 Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA (J.I.R., X.G.). Search for more papers by this author , Dhruv S. KaziDhruv S. Kazi https://orcid.org/0000-0002-9510-2979 Departments of Medicine (A.V.K., P.N., D.S.K.), Harvard Medical School, Boston, MA. Richard A. and Susan F. Smith Center for Outcomes Research, Beth Israel Deaconess Medical Center, Boston, MA (D.S.K.). Search for more papers by this author , Sarah D. de FerrantiSarah D. de Ferranti Pediatrics (S.D.d.F.), Harvard Medical School, Boston, MA. Department of Cardiology, Boston Children’s Hospital, MA (S.D.d.F.). *S.D. de Ferranti and A.E. Moran contributed equally. Search for more papers by this author and Andrew E. MoranAndrew E. Moran https://orcid.org/0000-0003-3554-0085 Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.). *S.D. de Ferranti and A.E. Moran contributed equally. Search for more papers by this author Originally published15 May 2023https://doi.org/10.1161/CIRCULATIONAHA.123.064168Circulation. 2023;147:1556–1559Footnotes*S.D. de Ferranti and A.E. Moran contributed equally.For Sources of Funding and Disclosures, see page 1558.Circulation is available at www.ahajournals.org/journal/circCorrespondence to: Yiyi Zhang, PhD, Columbia University Medical Center, Division of General Medicine, 622 West 168th St, PH9-109A, New York, NY 10032. Email [email protected]columbia.eduReferences1. Gidding SS, Champagne MA, de Ferranti SD, Defesche J, Ito MK, Knowles JW, McCrindle B, Raal F, Rader D, Santos RD, et al; American Heart Association Atherosclerosis, Hypertension, and Obesity in Young Committee of Council on Cardiovascular Disease in Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and Council on Lifestyle and Cardiometabolic Health. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association.Circulation. 2015; 132:2167–2192. doi: 10.1161/CIR.0000000000000297LinkGoogle Scholar2. Khera AV, Won HH, Peloso GM, Lawson KS, Bartz TM, Deng X, van Leeuwen EM, Natarajan P, Emdin CA, Bick AG, et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia.J Am Coll Cardiol. 2016; 67:2578–2589. doi: 10.1016/j.jacc.2016.03.520CrossrefMedlineGoogle Scholar3. Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, et al; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.Nature. 2021; 590:290–299. doi: 10.1038/s41586-021-03205-yCrossrefMedlineGoogle Scholar4. Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carrie A, Cuchel M, et al; Convened by the Familial Hypercholesterolemia Foundation. Clinical genetic testing for familial hypercholesterolemia: JACC Scientific Expert Panel.J Am Coll Cardiol. 2018; 72:662–680. doi: 10.1016/j.jacc.2018.05.044CrossrefMedlineGoogle Scholar5. Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O’Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system.Science. 2016; 354:aaf7000: doi: 10.1126/science.aaf7000CrossrefMedlineGoogle Scholar eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. Authors of the article cited in the comment will be invited to reply, as appropriate.Comments and feedback on AHA/ASA Scientific Statements and Guidelines should be directed to the AHA/ASA Manuscript Oversight Committee via its Correspondence page.Sign In to Submit a Response to This Article Previous Back to top Next FiguresReferencesRelatedDetails May 16, 2023Vol 147, Issue 20 Advertisement Article InformationMetrics © 2023 American Heart Association, Inc.https://doi.org/10.1161/CIRCULATIONAHA.123.064168PMID: 37186683 Originally publishedMay 15, 2023 Keywordslow-density lipoprotein cholesterolgenotypefamilial hypercholesterolemiacardiovascular diseasephenotypePDF download Advertisement
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familial hypercholesterolemia genotype,severe hypercholesterolemia
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