ArticleHGG advances2023
Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants.
Open access · goldAbstract read
In one paragraph
Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
2.1field-weighted citation impact, top 12% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Multi-ancestry whole genome sequencing analysis of lean body mass.Genome biology · 2025Pooled it
- X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report.Genes, brain, and behavior · 2025Article
- Integrated single-cell and spatial transcriptomics combined with whole-exome sequencing reveal key hub genes and epithelial heterogeneity in bladder cancer.Frontiers in oncology · 2025Article
- A genome-wide association study of neutrophil count in individuals associated to an African continental ancestry group facilitates studies of malaria pathogenesis.Human genomics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
62 authors at 20 institutions in 3 countries.
Kristin L YoungDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27516, USA.
Virginia FisherDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Xuan DengDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA.
Misa GraffDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27516, USA.
Elise LimDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Bridget M LinDepartment of Biostatistics, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27516, USA.
Hanfei XuDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Najaf AminDepartment of Epidemiology, Erasmus MC, University Medical Center, Rotterdam 3015CN, the Netherlands.
Ping AnDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Stella AslibekyanDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Alison E FohnerDepartment of Epidemiology, University of Washington, Seattle, WA 98101, USA.
Bertha HidalgoDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Petra LenziniDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Robert KraaijDepartment of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam 3015CN, the Netherlands.
Carolina Medina-GomezDepartment of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam 3015CN, the Netherlands.
Ivana ProkićDepartment of Epidemiology, Erasmus MC, University Medical Center, Rotterdam 3015CN, the Netherlands.
Fernando RivadeneiraDepartment of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam 3015CN, the Netherlands.
Colleen SitlaniCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98101, USA.
Ran TaoDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Jeroen van RooijDepartment of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam 3015CN, the Netherlands.
Di ZhangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jai G BroomeDepartment of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Erin J ButhDepartment of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Benjamin D HeavnerDepartment of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Deepti JainDepartment of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Albert V SmithDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Kathleen BarnesDivision of Biomedical Informatics and Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Meher Preethi BoorgulaDivision of Biomedical Informatics and Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Sameer ChavanDivision of Biomedical Informatics and Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Dawood DarbarDivision of Cardiology, Department of Medicine, University of Illinois at Chicago, Chicago, IL, USA.
Mariza De AndradeHealth Quantitative Sciences Research, Mayo Clinic, Rochester, MN, 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.
Marguerite R IrvinDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Rita R KalyaniDivision of Endocrinology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Sharon L R KardiaDepartment of Epidemiology, University of Michigan, Ann Arbor, MI, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Wonji KimChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Rasika A MathiasDivision of Allergy and Clinical Immunology, Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.
Merry-Lynn McDonaldDivision of Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Braxton D MitchellDepartment of Medicine, University of Maryland, Baltimore, MD, USA.
Patricia A PeyserDepartment of Epidemiology, University of Michigan, Ann Arbor, MI, USA.
Elizabeth A ReganDepartment of Medicine, National Jewish Health, Denver, CO, USA.
Susan RedlineDepartment of Medicine, Brigham & Women's Hospital, Boston, MA, USA.
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA 98101, 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.
Jennifer A SmithDepartment of Epidemiology, University of Michigan, Ann Arbor, MI, USA.
Scott WeissChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Kerri L WigginsDepartment of Medicine, University of Washington, Seattle, WA, USA.
Lisa R YanekDivision of General Internal Medicine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Donna ArnettCollege of Public Health, University of Kentucky, Lexington, KY, USA.
Nancy L Heard-CostaDepartment of Neurology, Boston University, Boston, MA, USA.
Suzanne LealDepartment of Neurology, Columbia University, New York City, NY, USA.
Danyu LinDepartment of Biostatistics, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27516, USA.
Barbara McKnightDepartment of Biostatistics, University of Washington, Seattle, WA 98105, USA.
Michael ProvinceDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Cornelia M van DuijnNuffield Department of Population Health, St. Cross College, Oxford, UK.
Kari E NorthDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27516, USA.
L Adrienne CupplesDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
Ching-Ti LiuDepartment of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA.
University of Washington · USBoston University · USErasmus MC · NLUniversity of North Carolina at Chapel Hill · USUniversity of Alabama at Birmingham · USBrigham and Women's Hospital · USJohns Hopkins University · USUniversity of Michigan · USWashington University in St. Louis · USFred Hutch Cancer Center · USUCLA Medical Center · USUniversity of Colorado Anschutz Medical Campus · USBaylor College of Medicine · USColumbia University · USMayo Clinic · USNational Jewish Health · USNuffield Health · GBTempus Labs (United States) · USUniversity of Illinois Chicago · USUniversity of Kentucky · US
Funding
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MGenomic 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
$77.0MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3MBuilding on GWAS for NHLBI-disease: the CHARGE consortiumRC2HL102419 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2009 to 2010
$27.6MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MNorth Carolina Translational & Clinical Sciences Institute (NC TraCS)KL2TR001109 · NCATS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BUSE, JOHN BERNARD, CAREY, TIMOTHY S · 2013 to 2017
$5.7MRare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6MGenetic Architecture of Adiposity in Multiple Large CohortsR01DK089256 · NIDDK · WASHINGTON UNIVERSITY · PI BARANSKI, THOMAS JOHN, LIU, CHING-TI · 2010 to 2016
$4.6MIntegrative Approaches to Identifying Function and Clinical Significance of Adiposity Susceptibility GenesR01DK122503 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Anne Justice, Ching-Ti Liu · 2020 to 2026
$4.5MEpigenetics of Successful AgingR01HL131136 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2017 to 2020
$4.0MCOPD Cachexia: Deciphering the Impact of Antioxidants, Iron and Mitochondrial Function Using 'Omics ApproachesR01HL153460 · NHLBI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI MCDONALD DONNELLY, MERRY-LYNN NOELLE · 2021 to 2024
$2.7MSemiparametric Analysis of Big Censored DataR01HL149683 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI LIN, DANYU · 2020 to 2023
$1.9MNCATS NIH HHS KL2 TR001109NHGRI NIH HHS R01 HG009974NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG008898NHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL131136NHLBI NIH HHS R01 HL149683NHLBI NIH HHS R01 HL153460NHLBI NIH HHS R21 HL140419NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS U01 HL120393NIDDK NIH HHS R01 DK089256NIDDK NIH HHS R01 DK122503NIEHS NIH HHS P30 ES010126
Abstract
Anthropometric traits, measuring body size and shape, are highly heritable and significant clinical risk factors for cardiometabolic disorders. These traits have been extensively studied in genome-wide association studies (GWASs), with hundreds of genome-wide significant loci identified. We performed a whole-exome sequence analysis of the genetics of height, body mass index (BMI) and waist/hip ratio (WHR). We meta-analyzed single-variant and gene-based associations of whole-exome sequence variation with height, BMI, and WHR in up to 22,004 individuals, and we assessed replication of our findings in up to 16,418 individuals from 10 independent cohorts from Trans-Omics for Precision Medicine (TOPMed). We identified four trait associations with single-nucleotide variants (SNVs; two for height and two for BMI) and replicated the
Indexed as
ExomeGenome-Wide Association StudyAnthropometryBody Mass IndexCell Cycle ProteinsHumansIntercellular Signaling Peptides and ProteinsQuantitative Trait LociCell Cycle ProteinsCEP63 protein, humanIntercellular Signaling Peptides and ProteinsLECT2 protein, humanbody mass indexcentral obesityexome sequencingheight
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