ArticleNature medicine2022
Genome-wide polygenic score to predict chronic kidney disease across ancestries.
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In one paragraph
Article in Nature medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
106citing papers in PubMed, 4 pooled it
31.0field-weighted citation impact, top 1% of its field
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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
106 citing papers in PubMed, 4 syntheses or guidelines pooled it, 154 citations in OpenAlex.
- Clinical and Genetic Predictors of Sickle Cell Nephropathy: A Global Systematic Review.Omics : a journal of integrative biology · 2025Pooled it
- Discovery and prioritization of genetic determinants of kidney function in 297,355 individuals from Taiwan and Japan.Nature communications · 2024Pooled it
- Shared genetic effect of kidney function on bipolar and major depressive disorders: a large-scale genome-wide cross-trait analysis.Human genomics · 2024Pooled it
- Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy.Blood advances · 2023Pooled it
- Association of polygenic scores with chronic kidney disease phenotypes in a longitudinal study of older adults.Kidney international · 2023Trial
- An integrative review of APOL1 kidney disease with a focus on the Brazilian population.Clinics (Sao Paulo, Brazil) · 2026Review
- Beyond eGFR and Albuminuria: Biological Pathways and Multiomics in Cardiovascular-Kidney-Metabolic Disease.Kidney international reports · 2026Review
- Salt and chronic kidney disease.Nature reviews. Nephrology · 2026Review
- Uromodulin T62P variant causes kidney tubular stress and injury modulated by age and polygenic risk.medRxiv : the preprint server for health sciences · 2026Article
- Atlas of glomerular disease-specific genetic effects on blood transcriptome.medRxiv : the preprint server for health sciences · 2026Article
- Modeling immune responses to autologous and allogeneic human stem cell-derived islet grafts in vivo.JCI insight · 2026Article
- Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank.American journal of human genetics · 2026Article
- Article
- Multimodal predictions of end stage chronic kidney disease from asymptomatic individuals for discovery of genomic biomarkers.BMC nephrology · 2026Article
- Proteomic risk score for early prediction of kidney disease progression in individuals with APOL1 high-risk genotypes.Nature medicine · 2026Article
- Admixture-informed polygenic risk reporting using the ePRS framework.Nature communications · 2026Article
- Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system.medRxiv : the preprint server for health sciences · 2026Article
- Widespread and Biologically Driven Sex Disparities in Polygenic Risk Prediction Across Complex Traits.Research square · 2026Article
- The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.American journal of human genetics · 2026Article
- Angiographic Burden of Coronary Atherosclerosis Partially Mediates the Association Between ASCVD Risk Factors and Outcomes.Circulation. Genomic and precision medicine · 2026Article
46 more citing papers are in PubMed but not listed here.
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Authors and funding
39 authors at 15 institutions in 1 country.
Atlas KhanDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0002-6651-2725
Michael C TurchinInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0003-3569-1529
Amit PatkiDepartment of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Vinodh SrinivasasainagendraDepartment of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Ning ShangDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0001-7040-5204
Rajiv NadukuruThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Alana C JonesDepartment of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.ORCID http://orcid.org/0000-0003-3827-2426
Edyta MalolepszaBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Ozan DikilitasDepartment of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-9906-8608
Iftikhar J KulloDepartment of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-6524-3471
Daniel J SchaidDepartment of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.
Elizabeth KarlsonDepartment of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Tian GeDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
James B MeigsDivision of General Internal Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Jordan W SmollerDepartment of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
Christoph LangeDepartment of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, MA, USA.
David R CrosslinDivision of Biomedical Informatics and Genomics, John W. Deming Department of Medicine, Tulane University School of Medicine, New Orleans, LA, USA.
Gail P JarvikDepartments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA, USA.
Pavan K BhatrajuDivision of Pulmonary, Critical Care and Sleep Medicine, Department of Medicine, University of Washington, Seattle, WA, USA.
Jacklyn N HellwegeDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-7479-0920
Paulette ChandlerDivision of Preventive Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Laura Rasmussen TorvikDepartment of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Alex FedotovIrving Institute for Clinical and Translational Research, Columbia University, New York, NY, USA.
Cong LiuDepartment of Biomedical Informatics, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Christopher KachulisBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Niall LennonBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Noura S Abul-HusnInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-5179-1944
Judy H ChoThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-7959-0466
Iuliana Ionita-LazaDepartment of Biostatistics, Columbia University, New York, NY, USA.
Ali G GharaviDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0003-2801-233X
Wendy K ChungDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
George HripcsakDepartment of Biomedical Informatics, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Chunhua WengDepartment of Biomedical Informatics, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.ORCID http://orcid.org/0000-0002-9624-0214
Girish NadkarniThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-6319-4314
Marguerite R IrvinDepartment of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Hemant K TiwariDepartment of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nita A LimdiDepartment of Neurology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA. kk473@columbia.edu.ORCID http://orcid.org/0000-0002-5047-6715
Columbia University · USUniversity of Alabama at Birmingham · USBroad Institute · USGenomic Health (United States) · USIcahn School of Medicine at Mount Sinai · USMayo Clinic in Arizona · USBrigham and Women's Hospital · USMassachusetts General Hospital · USColumbia University Irving Medical Center · USHarvard University · USNorthwestern University · USTulane University · USUniversity of Washington · USUniversity of Washington Medical Center · USVanderbilt University Medical Center · US
Funding
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MVCID and Stroke in a Bi-racial National CohortU01NS041588 · NINDS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI CUSHMAN, MARY, HOWARD, GEORGE · 2002 to 2022
$96.0MHYPERGEN: GENETICS OF LEFT VENTRICULAR HYPERTROPHYR01HL055673 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI ARNETT, DONNA K · 1996 to 2016
$18.1MFinding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6MOMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3MPredictors of hemorrhage among patients on direct acting oral anticoagulantsR01HL092173 · NHLBI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI LIMDI, NITA A · 2008 to 2023
$10.4MGenomic risk in clinic care to promote health equity in New York City patientsU01HG011176 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI NOURA SERENE ABUL-HUSN, Eimear Elizabeth Kenny · 2020 to 2026
$10.4MBuilding Interdisciplinary Research Careers in Women's HealthK12HD043483 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI HARTMANN, KATHERINE E, MAJOR, AMY S · 2002 to 2023
$10.3MIntegrating Genomic Risk Assessment for Disease Management in a Clinical PopulationU01HG011167 · NHGRI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI JAMES J CIMINO, NITA A LIMDI · 2020 to 2026
$9.3MCardiorenal Genomics for Risk Prediction in African Descent PopulationsR35HL155466 · NHLBI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Marguerite R Irvin · 2021 to 2026
$5.1MGenomics of glomerular diseaseRC2DK116690 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI KIRYLUK, KRZYSZTOF, KRETZLER, MATTHIAS · 2018 to 2022
$5.0MTOPMed Omics of Type 2 Diabetes and Quantitative TraitsUM1DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MANNING, ALISA KNODLE · 2021 to 2025
$3.8MNCATS NIH HHS UL1 TR001873NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG011167NHGRI NIH HHS U01 HG011176NHLBI NIH HHS K24 HL133373NHLBI NIH HHS R01 HL055673NHLBI NIH HHS R01 HL092173NHLBI NIH HHS R01 HL123782NHLBI NIH HHS R01 HL136666NHLBI NIH HHS R01 HL151855NHLBI NIH HHS R35 HL155466NIA NIH HHS R00 AG054573NICHD NIH HHS K12 HD043483NIDDK NIH HHS F31 DK128990NIDDK NIH HHS K23 DK116967NIDDK NIH HHS K25 DK128563NIDDK NIH HHS RC2 DK116690NIDDK NIH HHS T32 DK116672NIDDK NIH HHS U01 DK078616NIDDK NIH HHS UG3 DK114926NIDDK NIH HHS UM1 DK078616NIGMS NIH HHS R35 GM140487NIH HHS S10 OD026880NIH HHS S10 OD030463NINDS NIH HHS U01 NS041588NLM NIH HHS R01 LM013061
Abstract
Chronic kidney disease (CKD) is a common complex condition associated with high morbidity and mortality. Polygenic prediction could enhance CKD screening and prevention; however, this approach has not been optimized for ancestrally diverse populations. By combining APOL1 risk genotypes with genome-wide association studies (GWAS) of kidney function, we designed, optimized and validated a genome-wide polygenic score (GPS) for CKD. The new GPS was tested in 15 independent cohorts, including 3 cohorts of European ancestry (n = 97,050), 6 cohorts of African ancestry (n = 14,544), 4 cohorts of Asian ancestry (n = 8,625) and 2 admixed Latinx cohorts (n = 3,625). We demonstrated score transferability with reproducible performance across all tested cohorts. The top 2% of the GPS was associated with nearly threefold increased risk of CKD across ancestries. In African ancestry cohorts, the APOL1 risk genotype and polygenic component of the GPS had additive effects on the risk of CKD.
Indexed as
Apolipoprotein L1Renal Insufficiency, ChronicGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMultifactorial InheritancePolymorphism, Single NucleotideAPOL1 protein, humanApolipoprotein L1
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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.