ArticleFrontiers in endocrinology2022
The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations.
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Article in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
3.2field-weighted citation impact, top 8% of its field
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Decoding common and rare noncoding variant effects across cellular and developmental contexts.Nature genetics · 2026Article
- Enhancing polygenic risk prediction by modeling quantile-specific genetic effects.Scientific reports · 2026Article
- The transition from preclinical to clinical obesity: the importance of a borderline stage.Clinical science (London, England : 1979) · 2026Review
- Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants.medRxiv : the preprint server for health sciences · 2025Article
- Studying rare variant polygenic risk scores using whole exome sequencing and imputed genotype data.Communications biology · 2025Article
- Mapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heart.bioRxiv : the preprint server for biology · 2025Article
- Review
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- Fast and scalable ensemble learning method for versatile polygenic risk prediction.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.Genome medicine · 2024Review
- Trans-ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study.Clinical and translational medicine · 2023Article
Corrections and comments
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Authors and funding
41 authors at 20 institutions in 2 countries.
Zhe WangThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Shing Wan ChoiDepartment of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, New York, NY, United States.
Nathalie ChamiThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
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, United States.
Myriam FornageBrown Foundation Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, TX, United States.
Susan RedlineDivision of Sleep Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, United States.
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, United States.
Jennifer A BrodyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, United States.
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, United States.
Wonji KimChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, United States.
Merry-Lynn N McDonaldDivision of Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, United States.
Elizabeth A ReganDivision of Rheumatology, Department of Medicine, National Jewish Health, Denver, CO, United States.
Edwin K SilvermanChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, United States.
Ching-Ti LiuDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, United States.
Ramachandran S VasanNational Heart, Lung and Blood Institute's and Boston University's Framingham Heart Study, Framingham, MA, United States.
Rita R KalyaniDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Rasika A MathiasDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Lisa R YanekDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Donna K ArnettCollege of Public Health, University of Kentucky, Lexington, KY, United States.
Anne E JusticeDepartment of Population Health Services, Geisinger Health, Danville, PA, United States.
Kari E NorthDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Robert KaplanDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, United States.
Susan R HeckbertDepartment of Epidemiology, University of Washington, Seattle, WA, United States.
Mariza de AndradeDivision of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, United States.
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, United States.
Leslie A LangeDivision of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado Anchutz Medical Camus, Aurora, CA, United States.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, United States.
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, United States.
Patrick T EllinorCardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Steven A LubitzCardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, United States.
John BlangeroDepartment of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, United States.
M Benjamin ShoemakerDepartments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, United States.
Dawood DarbarDivision of Cardiology, University of Illinois at Chicago, Chicago, IL, United States.
Mark T GladwinDepartment of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.
Christine M AlbertDepartment of Cardiology, Cedars-Sinai Medical Center, Los Angeles, CA, United States.
Daniel I ChasmanDepartment of Medicine, Harvard Medical School, Boston, MA, United States.
Rebecca D JacksonDepartment of Medicine, Division of Endocrinology, Diabetes and Metabolism, The Ohio State University, Columbus, OH, United States.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, United States.
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA, United States.
Paul F O'ReillyDepartment of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai, New York, NY, United States.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
University of Washington · USIcahn School of Medicine at Mount Sinai · USBoston University · USHarbor–UCLA Medical Center · USHarvard University · USJohns Hopkins University · USAlbert Einstein College of Medicine · USBaylor College of Medicine · USBeth Israel Deaconess Medical Center · USBrigham and Women's Hospital · USBroad Institute · USBrown Foundation · USCedars-Sinai Medical Center · USChild Health and Development Institute · USFred Hutch Cancer Center · USGeisinger Health System · USJohns Hopkins Medicine · USMassachusetts General Hospital · USMayo Clinic · USThe Ohio State University · 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
$341.3MTranslational Research CoreP30DK020541 · NIDDK · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI STREAMSON C CHUA · 2015 to 2026
$27.7MIDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MASSOCIATION OF SLEEP DISORDERS WITH CARDIOVASCULAR HEALTH ACROSS ETHNIC GROUPSR01HL098433 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI REDLINE, SUSAN S. · 2010 to 2015
$8.2MHispanic Latino Lipid ConsortiumR01HL142302 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jennifer Below, JOSEPH MCCORMICK · 2018 to 2026
$5.8MEpigenetic Determinants of Lipid Response to Dietary Fat and FenofibrateR01HL104135 · NHLBI · UNIVERSITY OF KENTUCKY · PI ARNETT, DONNA K · 2010 to 2015
$5.5MA Family-based Exome Sequencing Approach to Identify Platelet Aggregation GenesR01HL112064 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI MATHIAS, RASIKA ANN · 2012 to 2015
$5.1MDiverse ancestry biobank to map biomedical traits and elucidate health disparitieU01HG007417 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2013 to 2017
$3.5MResilience to obesity in carriers of monogenic obesity mutations - a study on the underlying mechanismsR01DK124097 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2020 to 2023
$2.9MStudy of coding variants in human obesity and their functional characterization using human iPSC-derived cellular modelsR01DK110113 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2016 to 2020
$2.8MPAGE III: Population Architecture using Genomics and EpidemiologyR56HG010297 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, HAIMAN, CHRISTOPHER ALAN · 2018 to 2018
$1.0MMedical Research Council MC_PC_17228Medical Research Council MC_QA137853NHGRI NIH HHS R56 HG010297NHGRI NIH HHS U01 HG007417NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003273NHLBI NIH HHS HHSN268201500014CNHLBI NIH HHS HHSN268201500015CNHLBI NIH HHS HHSN268201600007INHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL098433NHLBI NIH HHS R01 HL104135NHLBI NIH HHS R01 HL112064NHLBI NIH HHS R01 HL142302NIDDK NIH HHS P30 DK020541NIDDK NIH HHS R01 DK110113NIDDK NIH HHS R01 DK124097
Abstract
Polygenic risk scores (PRSs) aggregate the effects of genetic variants across the genome and are used to predict risk of complex diseases, such as obesity. Current PRSs only include common variants (minor allele frequency (MAF) ≥1%), whereas the contribution of rare variants in PRSs to predict disease remains unknown. Here, we examine whether augmenting the standard common variant PRS (PRS
Indexed as
Genome-Wide Association StudyObesityGene FrequencyGenetic VariationHumansWhole Genome SequencingBMI - body mass indexburden scoreC+Tlassosumobesity riskpolygenic risk scorePRS-CSrare variants
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.