Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer (29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) containing 108 independent risk loci. In analyses stratified by subtype, 52 regions (78 loci) were associated with clear cell renal cell carcinoma (RCC) and 6 regions (7 loci) with papillary RCC. Notably, we report a variant common in African ancestry individuals ( rs7629500 ) in the 3' untranslated region of VHL, nearly tripling clear cell RCC risk (odds ratio 2.72, 95% confidence interval 2.23-3.30). In cis-expression quantitative trait locus analyses, 48 variants from 34 regions point toward 83 candidate genes. Enrichment of hypoxia-inducible factor-binding sites underscores the importance of hypoxia-related mechanisms in kidney cancer. Our results advance understanding of the genetic architecture of kidney cancer, provide clues for functional investigation and enable generation of a validated polygenic risk score with an estimated area under the curve of 0.65 (0.74 including risk factors) among European ancestry individuals.

Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA

Biobank Bordeaux Biothèque Santé CHU Bordeaux Bordeaux France

Biobank Resource Centre CHU Angers Angers France

Biosample Repository Fox Chase Cancer Center Temple Health Philadelphia PA USA

Booz Allen Hamilton Inc McLean VA USA

Broad Institute of MIT and Harvard Boston MA USA

Cancer Genomics Research Laboratory Frederick National Laboratory Rockville MD USA

Cancer Signaling and Microenvironment Biosample Repository Facility Fox Chase Cancer Center Temple Health Philadelphia PA USA

Center for Functional Cancer Epigenetics Dana Farber Cancer Institute Boston MA USA

Clinic of Nephrology Faculty of Medicine Military Medical Academy Belgrade Serbia

Clinical and Functional Genomics Group CIPE A C Camargo Cancer Center São Paulo Brazil

Dana Farber Cancer Institute Boston MA USA

Departament of Medical Image Hematology and Oncology Division of Medical Oncology Ribeirao Preto Medical School University of São Paulo Ribeirao Preto Brazil

Department of Cancer Epidemiology and Genetics Masaryk Memorial Cancer Institute Brno Czech Republic

Department of Clinical Epidemiology N N Blokhin National Medical Research Centre of Oncology Moscow Russia

Department of Epidemiology Division of Cancer Prevention and Population Sciences The University of Texas MD Anderson Cancer Center Houston TX USA

Department of Hematology and Medical Oncology Winship Cancer Institute Emory University School of Medicine Atlanta GA USA

Department of Medical Oncology Barretos Cancer Hospital Barretos Brazil

Department of Medical Oncology Dana Farber Cancer Institute Boston MA USA

Department of Medical Oncology Royal Marsden NHS Foundation Trust London UK

Department of Medicine Brigham and Women's Hospital Boston MA USA

Department of Medicine Division of Medical Oncology University of Colorado Anschutz Medical Campus Aurora CO USA

Department of Nuclear Dynamics and Cancer Fox Chase Cancer Center Temple Health Philadelphia PA USA

Department of Occupational Health and Toxicology National Center for Environmental Risk Monitoring National Institute of Public Health Bucharest Romania

Department of Oncology 2nd Faculty of Medicine and University Hospital Motol Charles University Prague Czech Republic

Department of Oncology Cambridge University Hospitals NHS Foundation Trust Cambridge UK

Department of Oncology Leeds Institute of Medical Research at St James's University of Leeds Leeds UK

Department of Oncology Oxford University Hospitals NHS Foundation Trust Oxford UK

Department of Pathology A C Camargo Cancer Center São Paulo Brazil

Department of Pathology CHU Angers Angers France

Department of Pathology Hospital Pasteur Montevideo Uruguay

Department of Pathology University of Colorado Anschutz Medical Campus Aurora CO USA

Department of Population Science American Cancer Society Atlanta GA USA

Department of Population Sciences Genetic Counseling Shared Resource Huntsman Cancer Institute Salt Lake City UT USA

Department of Quantitative Health Sciences Mayo Clinic Jacksonville FL USA

Department of Quantitative Health Sciences Mayo Clinic Rochester MN USA

Department of Surgery Division of Urology Huntsman Cancer Institute and University of Utah Salt Lake City UT USA

Department of Surgery Division of Urology São Paulo Federal University São Paulo Brazil

Department of Surgery University of Cambridge Cambridge UK

Department of Surgery Winship Cancer Institute Emory University School of Medicine Atlanta GA USA

Department of Surgical Oncology Division of Urology Princess Margaret Cancer Centre University Health Network Toronto Ontario Canada

Department of Urology A C Camargo Cancer Center São Paulo Brazil

Department of Urology Barretos Cancer Hospital Barretos Brazil

Department of Urology CHU Angers Angers France

Department of Urology CHU Bordeaux Bordeaux France

Department of Urology Clinical Hospital Center Dr Dragisa Misovic Dedinje Belgrade Serbia

Department of Urology Division of Urologic Oncology West Virginia University Cancer Institute Morgantown WV USA

Department of Urology Fox Chase Cancer Center Temple Health Philadelphia PA USA

Department of Urology Holden Comprehensive Cancer Center University of Iowa Iowa City IA USA

Department of Urology Hospital Pasteur Montevideo Uruguay

Department of Urology Imperial College Healthcare NHS Trust London UK

Department of Urology Mayo Clinic Jacksonville FL USA

Department of Urology Mayo Clinic Rochester MN USA

Department of Urology Newcastle Hospitals NHS Foundation Trust Newcastle UK

Department of Urology Oxford University Hospitals NHS Foundation Trust Oxford UK

Department of Urology Stockport NHS Foundation Trust Stockport UK

Department of Urology The Ohio State University Wexner Medical Center Columbus OH USA

Department of Urology UCLA Jonsson Comprehensive Cancer Center Los Angeles CA USA

Department of Urology Western General Hospital NHS Lothian Edinburgh UK

Department of Urology Winship Cancer Institute Emory University School of Medicine Atlanta GA USA

Departments of Medical Imaging Hematology and Oncology Division of Medical Oncology Ribeirao Preto Medical School University of São Paulo Ribeirao Preto Brazil

Departments of Radiology and Oncology Comprehensive Center for Precision Oncology C2PO Centro de Investigação Translacional em Oncologia Instituto do Cancer do Estado de São Paulo Hospital das Clinicas Faculdade de Medicina Universidade de São Paulo São Paulo Brazil

Departments of Surgery and Anatomy Division of Urology Ribeirao Preto Medical School University of São Paulo Ribeirao Preto Brazil

Diagnostic Development Program Tissue Portal Ontario Institute for Cancer Research Toronto Ontario Canada

Division of Genetics and Epidemiology Institute of Cancer Research Sutton UK

Division of Oncology University of Nottingham Nottingham UK

Faculty of Health Sciences Palacky University Olomouc Czech Republic

Genitourinary Oncology Program Moffitt Cancer Center Tampa FL USA

Genomic Epidemiology Branch International Agency for Research on Cancer Lyon France

Institute for Molecular Medicine Finland University of Helsinki Helsinki Finland

Institute of Hygiene and Epidemiology 1st Faculty of Medicine Charles University Prague Czech Republic

Institute of Public Health and Preventive Medicine 2nd Faculty of Medicine Charles University Prague Czech Republic

Integrative Tumor Epidemiology Branch Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA

International Organisation for Cancer Prevention and Research Belgrade Serbia

Laboratory for Pharmacogenomics RIKEN Center for Integrative Medical Sciences Yokohama Japan

Laboratory for Statistical and Translational Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan

Laboratory of Genetic Susceptibility Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA

Laboratory of Translational Genomics Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA

Latin American Renal Cancer Group São Paulo Brazil

Leeds Institute of Medical Research at St James's University of Leeds Leeds UK

Life and Health Sciences Research Institute School of Medicine University of Minho Braga Portugal

Metabolic Epidemiology Branch Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA

Molecular Oncology Research Center Barretos Cancer Hospital Barretos Brazil

National Institute for Science and Technology in Oncogenomics and Therapeutic Innovation INCIT INOTE São Paulo Brazil

Observational and Pragmatic Research Institute Pte Ltd Singapore Singapore

Occupational and Environmental Epidemiology Branch Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville MD USA

Oncology Clinical Research Support Team University of Colorado Anschutz Medical Campus Aurora CO USA

Ontario Tumour Bank Ontario Institute for Cancer Research Toronto Ontario Canada

Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA

Surgery Department Urology Division Instituto do Cancer do Estado de São Paulo Hospital das Clinicas HCFMUSP Faculdade de Medicina Universidade de São Paulo São Paulo Brazil

Tissue Core Moffitt Cancer Center Tampa FL USA

Tumor Bank Hospital Militar Montevideo Uruguay

Urologic Oncology Branch Center for Cancer Research National Cancer Institute Bethesda MD USA

Urology Department Academy of Romanian Scientists Carol Davila University of Medicine and Pharmacy Bucharest Romania

Urology Department Carol Davila University of Medicine and Pharmacy Bucharest Romania

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