ArticleScience (New York, N.Y.)2025
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants.
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Article in Science (New York, N.Y.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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49citing papers in PubMed
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Who cites it
49 citing papers in PubMed.
- The landscape of allele-specific expression in human kidneys.Science advances · 2026Article
- Article
- Inherited Susceptibility to Urinary Tract Infections from Kidney Papilla to Bladder.medRxiv : the preprint server for health sciences · 2026Article
- Mrpl50 integrates glucolipotoxicity with hypoxia-inducible factor 1 alpha signaling to drive diabetic kidney disease.The Journal of biological chemistry · 2026Article
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- Salt and chronic kidney disease.Nature reviews. Nephrology · 2026Review
- Scoping Review of Polygenic Risk Scores in Kidney-Related Traits.Kidney international reports · 2026Article
- Multi-Omics Integration Reveals the Genetic Mechanisms of Periodontitis and Predicts Therapeutic Drugs.International dental journal · 2026Article
- Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.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
- Genetic kidney disease in adults-the pathologists' perspective.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Review
- ELF3 links kidney function GWAS loci to maladaptive epithelial inflammation.Science advances · 2026Article
- Atlas of glomerular disease-specific genetic effects on blood transcriptome.medRxiv : the preprint server for health sciences · 2026Article
- Genomic medicine is failing most of humanity.Nature reviews. Nephrology · 2026Article
- ACLY-Driven Metabolic Reprogramming Promotes Histone Acetylation and Inflammation-Associated Fibrosis in Chronic Kidney Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Article
- Multi-Omics Integrative Analysis Identifies the NK Cell-STAT3 Axis as a Shared Immunogenetic Hub Underlying the Comorbidity of Primary Sclerosing Cholangitis and Ulcerative Colitis.Life (Basel, Switzerland) · 2026Article
- Maternal obesity induces macrophage to myofibroblast transition in kidneys of male offspring through a pathway driven by 20-hydroxyeicosatetraenoic acid.Nature communications · 2026Article
- Multidimensional dissection of shared genetic susceptibility in ulcerative colitis and colorectal cancer: novel insights from integrative single-cell and multi-omics analysis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Multivariable genome-wide analysis elucidates the shared genetic architecture, immunosenescence features, and gut-origin therapeutic targets of ulcerative colitis-associated multisystem inflammation.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
Corrections and comments
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Authors and funding
71 authors.
Hongbo LiuDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Amin AbediniDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Eunji HaDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Ziyuan MaDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Xin ShengDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Bernhard DumoulinDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Chengxiang QiuDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Tamas AranyiDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Shen LiDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Nicole DittrichDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Hua-Chang ChenDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
Ran TaoDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, TN, USA.
Der-Cherng TarngInstitute of Clinical Medicine, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan, ROC.
Feng-Jen HsiehInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan, ROC.
Shih-Ann ChenCardiovascular Center, Taichung Veterans General Hospital, Taichung, Taiwan, ROC.
Shun-Fa YangInstitute of Medicine, Chung Shan Medical University, Taichung, Taiwan, ROC.
Mei-Yueh LeeDivision of Endocrinology and Metabolism, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan, ROC.
Pui-Yan KwokInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan, ROC.
Jer-Yuarn WuInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan, ROC.
Chien-Hsiun ChenInstitute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan, ROC.
Atlas KhanDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Nita A LimdiDepartment of Neurology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Wei-Qi WeiDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Theresa L WalunasDepartment of Medicine, Division of General Internal Medicine and Center for Health Information Partnerships, Institute for Public Health and Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Elizabeth W KarlsonDepartment of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Yuan LuoDepartment of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Leah KottyanThe Center for Autoimmune Genomics and Etiology, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
John J ConnollyCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Gail P JarvikDepartments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA, USA.
Chunhua WengDepartment of Biomedical Informatics, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Ning ShangDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Joanne B ColePrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Josep M MercaderPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ravi MandlaPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Timothy D MajarianPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jose C FlorezPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mary E HaasRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Luca A LottaRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA.
Regeneron Genetics Center‡
GHS-RGC DiscovEHR Collaboration§
Theodore G DrivasDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Penn Medicine BioBank¶
Ha My T VyDivision of Nephrology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Girish N NadkarniDivision of Nephrology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Laura K WileyColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Melissa P WilsonDepartment of Biomedical Informatics, University of Colorado School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Christopher R GignouxColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Humaira RasheedKGJebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Laurent F ThomasKGJebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Bjørn Olav ÅsvoldKGJebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Ben M BrumptonKGJebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Stein I HallanDepartment of Clinical and Molecular Medicine, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Kristian HveemKGJebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Jie ZhengMRC Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, United Kingdom.
Jacklyn N HellwegeVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Matthew ZawistowskiDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Sebastian ZöllnerDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.
Nora FranceschiniDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC, USA.
Hailong HuDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Jianfu ZhouDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY, USA.
Marylyn D RitchieDepartment of Genetics, University of Pennsylvania, Philadelphia, PA, USA.
Matthew PalmerPathology and Laboratory Medicine at the Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
Todd L EdwardsDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Benjamin F VoightDepartment of Genetics, University of Pennsylvania, Philadelphia, PA, USA.
Adriana M HungDivision of Nephrology and Hypertension, Vanderbilt Center for Kidney Disease, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Katalin SusztakDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Regeneron Genetics Center
GHS-RGC DiscovEHR Collaboration
Penn Medicine BioBank
Funding
Phenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4MVIRAL VECTOR COREP30DK019525 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI DOUGLAS J EPSTEIN · 1986 to 2026
$48.3MTRANSGENIC AND CHIMERIC MOUSE COREP30DK050306 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI GARY D. WU · 1997 to 2026
$32.5MThe eMERGE Risk Assessment Network - Coordinating CenterU01HG011166 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Niall John Lennon, Joseph F. Peterson · 2020 to 2026
$16.8MGenomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MFinding 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
$13.6MVariation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4MOMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3MPolygenic Risk Scores for Diverse Populations - Bridging Research and Clinical CareR01HL151152 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Christy Leigh Avery, Jennifer Below · 2020 to 2026
$12.3MGenomic 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
$10.3MUtilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics HealthcareU01HG011175 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI Hakon Hakonarson · 2020 to 2026
$10.3MBLRD VA I01 BX003360CSRD VA I01 CX001897NCATS NIH HHS UL1 TR001878NHGRI NIH HHS R01 HG011345NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG011166NHGRI NIH HHS U01 HG011167NHGRI NIH HHS U01 HG011169NHGRI NIH HHS U01 HG011172NHGRI NIH HHS U01 HG011175NHGRI NIH HHS U01 HG011176NHGRI NIH HHS U01 HG011181NHLBI NIH HHS K24 HL157960NHLBI NIH HHS R01 HL151152NHLBI NIH HHS R01 HL163972NIAMS NIH HHS K12 AR084232NIAMS NIH HHS P30 AR070549NICHD NIH HHS K12 HD043483NIDDK NIH HHS K25 DK128563NIDDK NIH HHS K26 DK138425NIDDK NIH HHS P30 DK019525NIDDK NIH HHS P30 DK050306NIDDK NIH HHS P50 DK114786NIDDK NIH HHS R01 DK076077NIDDK NIH HHS R01 DK087635NIDDK NIH HHS R01 DK105821NIDDK NIH HHS R01 DK117445NIDDK NIH HHS R01 DK132299NIDDK NIH HHS R01 DK132630NIDDK NIH HHS UM1 DK126194
Abstract
Kidney dysfunction is a major cause of mortality, but its genetic architecture remains elusive. In this study, we conducted a multiancestry genome-wide association study in 2.2 million individuals and identified 1026 (97 previously unknown) independent loci. Ancestry-specific analysis indicated an attenuation of newly identified signals on common variants in European ancestry populations and the power of population diversity for further discoveries. We defined genotype effects on allele-specific gene expression and regulatory circuitries in more than 700 human kidneys and 237,000 cells. We found 1363 coding variants disrupting 782 genes, with 601 genes also targeted by regulatory variants and convergence in 161 genes. Integrating 32 types of genetic information, we present the "Kidney Disease Genetic Scorecard" for prioritizing potentially causal genes, cell types, and druggable targets for kidney disease.
Indexed as
Genetic VariationKidneyKidney DiseasesAllelesGene Expression RegulationGene Regulatory NetworksGenome-Wide Association StudyGenotypeHumansPolymorphism, Single NucleotideWhiteWhite People
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