ArticleBMC genomics2022
Rare coding variants in RCN3 are associated with blood pressure.
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Article in BMC genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 10 citations in OpenAlex.
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- Adjustment for Genotype Imputation Uncertainty Corrects for Inflated Type I Error in Family-Based Association Testing.Genetic epidemiology · 2025Article
- Harnessing the power of genomics in hypertension: tip of the iceberg?Cambridge prisms. Precision medicine · 2025Review
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78 authors at 20 institutions in 3 countries.
Karen Y HeDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, Cleveland, OH, 44106, USA.
Tanika N KellyDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA.
Heming WangDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Jingjing LiangDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, Cleveland, OH, 44106, USA.
Luke ZhuCenter for Human Genetics & Genomics, New York University Grossman School of Medicine, New York, NY, USA.
Brian E CadeDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Themistocles L AssimesDepartment of Medicine (Division of Cardiovascular Medicine), Stanford University, Palo Alto, CA, USA.
Lewis C BeckerGeneSTAR Research Program, Department of Medicine, Divisions of Cardiology and General Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Amber L BeitelsheesDivision of Endocrinology, Diabetes, and Nutrition, Program for Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.
Lawrence F BielakDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Adam P BressDepartment of Population Health Sciences, University of Utah School of Medicine, Salt Lake City, UT, USA.
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
Yen-Pei Christy ChangDivision of Endocrinology, Diabetes, and Nutrition, Program for Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.
Yi-Cheng ChangGraduate Institute of Medical Genomics and Proteomics, National Taiwan University, Taipei City, Taiwan.
Paul S de VriesHuman 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.
Ravindranath DuggiralaDepartment of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.
Ervin R FoxDivision of Cardiovascular Diseases, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
Nora FranceschiniDepartment of Epidemiology, UNC Gillings School of Global Public Health, Chapel Hill, NC, USA.
Anna L FurnissJackson Heart Study, University of Mississippi Medical Center, Jackson, MS, USA.
Yan GaoDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, USA.
Xiuqing GuoThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Jeffrey HaesslerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Yi-Jen HungInstitute of Preventive Medicine, National Defense Medical Center, New Taipei City, Taiwan.
Shih-Jen HwangDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.
Marguerite Ryan IrvinDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AB, USA.
Rita R KalyaniGeneSTAR Research Program, Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Ching-Ti LiuDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.
Chunyu LiuDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.
Lisa Warsinger MartinDivision of Cardiology, Department of Medicine, George Washington University, Washington, DC, USA.
May E MontasserDivision of Endocrinology, Diabetes, and Nutrition, Program for Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.
Paul M MuntnerDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AB, USA.
Stanford MwasongweJackson Heart Study, Jackson State University, Jackson, MS, USA.
Take NaseriMinistry of Health, Government of Samoa, Apia, Samoa.
Walter PalmasDivision of Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Muagututi'a Sefuiva ReupenaLutia I Puava Ae Mapu I Fagalele, Apia, Samoa.
Kenneth M RiceDepartment of Biostatistics, School of Public Health, University of Washington, Seattle, WA, USA.
Wayne H-H SheuDivision of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung City, Taiwan.
Daichi ShimboDivision of Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Jennifer A SmithDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Beverly M SnivelyDepartment of Biostatistics and Data Science, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Lisa R YanekGeneSTAR Research Program, Department of Medicine, Division of General Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Wei ZhaoDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
John BlangeroDepartment of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.
Eric BoerwinkleHuman 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.
Yii-Der Ida ChenThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Adolfo CorreaJackson Heart Study, University of Mississippi Medical Center, Jackson, MS, USA.
L Adrienne CupplesDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA, USA.
Joanne E CurranDepartment of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.
Myriam FornageHuman 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 HeDepartment of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA.
Lifang HouDepartment of Preventive Medicine, Feinberg School of Medicine, Northwestern University Chicago, Evanston, IL, USA.
Robert C KaplanDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY, USA.
Sharon L R KardiaDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Donald Lloyd-JonesDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY, USA.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Rasika A MathiasGeneSTAR Research Program, Department of Medicine, Divisions of Allergy and Clinical Immunology and General Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Stephen T McGarveyInternational Health Institute and Department of Epidemiology, School of Public Health, Brown University, Providence, RI, USA.
Braxton D MitchellDivision of Endocrinology, Diabetes, and Nutrition, Program for Personalized and Genomic Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.
Kari E NorthDepartment of Epidemiology, UNC Gillings School of Global Public Health, Chapel Hill, NC, USA.
Patricia A PeyserDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Bruce M PsatyCardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Systems and Population Health, University of Washington, Seattle, WA, USA.
Laura M RaffieldDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
D C RaoDivision of Biostatistics, Washington University School of Medicine, St. Louis, MO, USA.
Susan RedlineDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Alex P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA, USA.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Russell TracyDepartment of Pathology & Laboratory Medicine, Larner College of Medicine, University of Vermont, Burlington, VT, USA.
Ramachandran S VasanFramingham Heart Study, National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA.
Samoan Obesity, Lifestyle and Genetic Adaptations Study (OLaGA) Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
Alanna C MorrisonHuman 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.
Daniel LevyFramingham Heart Study, National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA.
Aravinda ChakravartiCenter for Human Genetics & Genomics, New York University Grossman School of Medicine, New York, NY, USA.
Donna K ArnettUniversity of Kentucky College of Public Health, Lexington, KY, USA.
Xiaofeng ZhuDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, Cleveland, OH, 44106, USA. xxz10@case.edu.ORCID http://orcid.org/0000-0003-0037-411X
Boston University · USUniversity of Maryland, Baltimore · USUniversity of Michigan · USJohns Hopkins University · USUCLA Medical Center · USUniversity of Washington · USCornell University · USJackson Memorial Hospital · USThe University of Texas Rio Grande Valley · USAlbert Einstein College of Medicine · USBroad Institute · USCenter for Human Genetics · USColumbia University Irving Medical Center · USFred Hutch Cancer Center · USNational University of Samoa · WSThe University of Texas Health Science Center at Houston · USTulane University · USUniversity of Alabama at Birmingham · USUniversity of North Carolina at Chapel Hill · USBaylor College of Medicine · US
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MUCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MGenomic Architecture of Common Disease in Diverse Populations: WGS of Ongoing Hemorrhagic Stroke Study SupplementUM1HG008898 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2016 to 2020
$77.0MInstitute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MTranslational Research Support CoreP30ES000002 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI JAIME ELIZABETH HART · 1985 to 2026
$44.6MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4MZINC AND CA EDTA THERAPY OF PLUMBISMM01RR000052 · NCRR · JOHNS HOPKINS UNIVERSITY · PI MARSH, LAURA · 1985 to 2007
$37.3MWake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3MPEDIGREE ANALYSIS OF LIPOPROTEIN PHENOTYPESP01HL045522 · NHLBI · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI BLANGERO, JOHN · 1991 to 2012
$27.6MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MTulane COBRE in Cardiometabolic Diseases Clinical Research CoreP20GM109036 · NIGMS · TULANE UNIVERSITY OF LOUISIANA · PI Ning Liu · 2016 to 2026
$25.3MNCATS NIH HHS KL2 TR002490NCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NCATS NIH HHS UL1 TR001881NCRR NIH HHS M01 RR000052NCRR NIH HHS UL1 RR033176NHGRI NIH HHS HG003054NHGRI NIH HHS HG011052NHGRI NIH HHS HHSN268201300003CNHGRI NIH HHS R01 HG003054NHGRI NIH HHS R01 HG011052NHGRI NIH HHS R56 HG010297NHGRI NIH HHS U01 HG007417NHGRI NIH HHS U24 HG008956NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG008898NHLBI NIH HHS 75N92020D00001NHLBI NIH HHS 75N92020D00002NHLBI NIH HHS 75N92020D00003NHLBI NIH HHS 75N92020D00004NHLBI NIH HHS 75N92020D00005NHLBI NIH HHS 75N92020D00006NHLBI NIH HHS 75N92020D00007NHLBI NIH HHS 75N92021D00006NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201300001CNHLBI NIH HHS HHSN268201300003INHLBI NIH HHS HHSN268201300004CNHLBI NIH HHS HHSN268201300005CNHLBI NIH HHS HHSN268201500003CNHLBI NIH HHS HHSN268201500003INHLBI NIH HHS HHSN268201500014CNHLBI NIH HHS HHSN268201500015CNHLBI NIH HHS HHSN268201500016CNHLBI NIH HHS HHSN268201600001CNHLBI NIH HHS HHSN268201600002CNHLBI NIH HHS HHSN268201600003CNHLBI NIH HHS HHSN268201600004CNHLBI NIH HHS HHSN268201600018CNHLBI NIH HHS HHSN268201700001CNHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002CNHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003CNHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004CNHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005CNHLBI NIH HHS HHSN268201700005INHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS HHSN268201800003INHLBI NIH HHS HHSN268201800004INHLBI NIH HHS HHSN268201800005INHLBI NIH HHS HHSN268201800006INHLBI NIH HHS HHSN268201800007INHLBI NIH HHS HHSN268201800010INHLBI NIH HHS HHSN268201800011CNHLBI NIH HHS HHSN268201800011INHLBI NIH HHS HHSN268201800012CNHLBI NIH HHS HHSN268201800012INHLBI NIH HHS HHSN268201800014CNHLBI NIH HHS HHSN268201800014INHLBI NIH HHS HHSN268201800015INHLBI NIH HHS HL007567NHLBI NIH HHS HL086694NHLBI NIH HHS K01 HL133468NHLBI NIH HHS K01 HL135405NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC065233NHLBI NIH HHS N01 HC065234NHLBI NIH HHS N01 HC065235NHLBI NIH HHS N01 HC065236NHLBI NIH HHS N01 HC065237NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS N02 HL064278NHLBI NIH HHS P01 HL045522NHLBI NIH HHS R01 HL046380NHLBI NIH HHS R01 HL049762NHLBI NIH HHS R01 HL055673NHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL071025NHLBI NIH HHS R01 HL071051NHLBI NIH HHS R01 HL071205NHLBI NIH HHS R01 HL071250NHLBI NIH HHS R01 HL071251NHLBI NIH HHS R01 HL071258NHLBI NIH HHS R01 HL071259NHLBI NIH HHS R01 HL086694NHLBI NIH HHS R01 HL087263NHLBI NIH HHS R01 HL087660NHLBI NIH HHS R01 HL087698NHLBI NIH HHS R01 HL088119NHLBI NIH HHS R01 HL090682NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL093093NHLBI NIH HHS R01 HL098433NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL111249NHLBI NIH HHS R01 HL112064NHLBI NIH HHS R01 HL113323NHLBI NIH HHS R01 HL113338NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL119443NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL121007NHLBI NIH HHS R01 HL131136NHLBI NIH HHS R01 HL133040NHLBI NIH HHS R01 HL153805NHLBI NIH HHS R03 HL154284NHLBI NIH HHS R21 HL140385NHLBI NIH HHS R35 HL135818NHLBI NIH HHS T32 HL007567NHLBI NIH HHS U01 HL054457NHLBI NIH HHS U01 HL054464NHLBI NIH HHS U01 HL054472NHLBI NIH HHS U01 HL054473NHLBI NIH HHS U01 HL054481NHLBI NIH HHS U01 HL054495NHLBI NIH HHS U01 HL054498NHLBI NIH HHS U01 HL054509NHLBI NIH HHS U01 HL054527NHLBI NIH HHS U01 HL072507NHLBI NIH HHS U01 HL072515NHLBI NIH HHS U01 HL072518NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL130114NIA NIH HHS R01 AG018728NIA NIH HHS R01 AG023629NIDDK NIH HHS P30 DK063491NIDDK NIH HHS R01 DK107786NIDDK NIH HHS R01 DK110113NIDDK NIH HHS R01 DK117445NIDDK NIH HHS U01 DK085524NIEHS NIH HHS HHSN268201600032CNIEHS NIH HHS HHSN268201600033CNIGMS NIH HHS P20 GM109036NIMHD NIH HHS HHSN268201800013INIMHD NIH HHS R01 MD012765NIMH NIH HHS R01 MH078111NIMH NIH HHS R01 MH078143NIMH NIH HHS R01 MH083824
Abstract
backgroundWhile large genome-wide association studies have identified nearly one thousand loci associated with variation in blood pressure, rare variant identification is still a challenge. In family-based cohorts, genome-wide linkage scans have been successful in identifying rare genetic variants for blood pressure. This study aims to identify low frequency and rare genetic variants within previously reported linkage regions on chromosomes 1 and 19 in African American families from the Trans-Omics for Precision Medicine (TOPMed) program. Genetic association analyses weighted by linkage evidence were completed with whole genome sequencing data within and across TOPMed ancestral groups consisting of 60,388 individuals of European, African, East Asian, Hispanic, and Samoan ancestries.
resultsAssociations of low frequency and rare variants in RCN3 and multiple other genes were observed for blood pressure traits in TOPMed samples. The association of low frequency and rare coding variants in RCN3 was further replicated in UK Biobank samples (N = 403,522), and reached genome-wide significance for diastolic blood pressure (p = 2.01 × 10
conclusionsLow frequency and rare variants in RCN3 contributes blood pressure variation. This study demonstrates that focusing association analyses in linkage regions greatly reduces multiple-testing burden and improves power to identify novel rare variants associated with blood pressure traits.
Indexed as
Genome-Wide Association StudyPrecision MedicineBlood PressureGenetic LinkageGenetic Predisposition to DiseaseHumansPolymorphism, Single NucleotideWhole Genome SequencingBlood pressureRare variant analysisWhole genome sequencing
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