ArticleNature genetics2021
A cross-population atlas of genetic associations for 220 human phenotypes.
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Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,460 papers, 17 of them syntheses that pooled it.
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1,460citing papers in PubMed, 17 pooled it
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What it found
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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
1,460 citing papers in PubMed, 17 syntheses or guidelines pooled it.
- A multiancestry polygenic risk score improves stratification in patients with hypertrophic cardiomyopathy.Nature cardiovascular research · 2026Pooled it
- Multi-ancestry genetic architecture of heart failure subtypes.Nature communications · 2026Pooled it
- Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Pooled it
- Discovering Age- and Sex-Specific Genetic Risk Factors in Sensorineural Hearing Loss: Genome-Wide Evidence from Large-Scale Biobanks.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Multiancestry and Multitrait GWAS Meta-Analysis on Schizophrenia With a Sample of 322,321 Unveils Genetic Links to Chronic Lung Diseases.Genes, brain, and behavior · 2026Pooled it
- Multi-ancestry genome-wide association analyses provide insights into the genetic basis of Hashimoto's thyroiditis.Nature genetics · 2026Pooled it
- Genetic drivers of etiologic heterogeneity in thyroid cancer.Nature communications · 2026Pooled it
- Genome-wide analysis implicates inner ear development in Ménière disease.American journal of human genetics · 2026Pooled it
- Multi-Trait Genetic Insights Into Schizophrenia Across Ancestries: Genome-Wide Association Meta-Analyses, Machine Learning, and Drug Repurposing Study.Brain and behavior · 2026Pooled it
- Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases.American journal of human genetics · 2026Pooled it
- Genome-wide association study reveals a novel tuberculosis susceptibility locus in multiple East Asian and European populations.Genome medicine · 2026Pooled it
- Genome-wide meta-analysis identifies genetic drivers of bile acid metabolism in intrahepatic cholestasis of pregnancy.Nature communications · 2026Pooled it
- Pooled it
- Genetic architecture of lumbar spinal stenosis.Nature communications · 2026Pooled it
- The janus-faced role of uric acid in COPD: evidence from East Asians population.NPJ primary care respiratory medicine · 2026Pooled it
- Breastfeeding association with DNA methylation in the pregnancy and childhood epigenetics (PACE) consortium.Clinical epigenetics · 2026Pooled it
- Unraveling the connection and pathogenesis of systemic lupus erythematosus and thyroid cancer: integrative meta-analysis, Mendelian randomization, and transcriptomic insights.Clinical rheumatology · 2026Pooled it
- A validated, modifiable proteomic score from the EXSCEL trial predicts cardiovascular events in diabetes.JCI insight · 2026Trial
- Deciphering the interplay between serum urate and bone mineral density: insights from observational and genetic perspectives.Journal of the International Society of Sports Nutrition · 2026Article
- Potential circadian rhythm-related pathogenic genes in diabetic nephropathy: a multi-omics Mendelian randomization study.Renal failure · 2026Article
1,400 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
47 authors.
Saori Sakaue *Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan. ssakaue@bwh.harvard.edu.ORCID http://orcid.org/0000-0003-3618-9717
Masahiro Kanai *Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.ORCID http://orcid.org/0000-0001-5165-4408
Yosuke TanigawaDepartment of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0001-9759-157X
Juha KarjalainenProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Mitja KurkiProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Seizo KoshibaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Akira NaritaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.ORCID http://orcid.org/0000-0002-9076-0710
Takahiro KonumaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Kenichi YamamotoDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.
Masato AkiyamaLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Kazuyoshi IshigakiLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0003-2881-0657
Akari SuzukiLaboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Ken SuzukiDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.ORCID http://orcid.org/0000-0003-1065-3593
Wataru ObaraDepartment of Urology, Iwate Medical University, Iwate, Japan.
Ken YamajiDepartment of Internal Medicine and Rheumatology, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Kazuhisa TakahashiDepartment of Respiratory Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Satoshi AsaiDivision of Pharmacology, Department of Biomedical Science, Nihon University School of Medicine, Tokyo, Japan.
Yasuo TakahashiDivision of Genomic Epidemiology and Clinical Trials, Clinical Trials Research Center, Nihon University School of Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0003-2543-7543
Takao SuzukiTokushukai Group, Tokyo, Japan.
Nobuaki ShinozakiTokushukai Group, Tokyo, Japan.
Hiroki YamaguchiDepartment of Hematology, Nippon Medical School, Tokyo, Japan.ORCID http://orcid.org/0000-0002-0571-7495
Shiro MinamiDepartment of Bioregulation, Nippon Medical School, Kawasaki, Japan.
Shigeo MurayamaTokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo, Japan.
Kozo YoshimoriFukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.
Satoshi NagayamaThe Cancer Institute Hospital of the Japanese Foundation for Cancer Research, Tokyo, Japan.
Daisuke ObataCenter for Clinical Research and Advanced Medicine, Shiga University of Medical Science, Otsu, Japan.
Masahiko HigashiyamaDepartment of General Thoracic Surgery, Osaka International Cancer Institute, Osaka, Japan.
Akihide MasumotoAso Iizuka Hospital, Fukuoka, Japan.
Yukihiro KoretsuneNational Hospital Organization Osaka National Hospital, Osaka, Japan.
FinnGen
Kaoru ItoLaboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0003-1843-773X
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-6452-4095
Toshimasa YamauchiDepartment of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Issei KomuroDepartment of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0002-0714-7182
Takashi KadowakiDepartment of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Gen TamiyaTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Masayuki YamamotoTohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.ORCID http://orcid.org/0000-0002-9073-9436
Yusuke NakamuraHuman Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Michiaki KuboRIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-0095-2322
Yoshinori MurakamiDivision of Molecular Pathology, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0002-2826-4396
Kazuhiko YamamotoLaboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Yoichiro KamataniLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Aarno PalotieProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2527-5874
Manuel A RivasDepartment of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0003-1457-9925
Mark J DalyProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-0949-8752
Koichi MatsudaDepartment of Computational Biology and Medical Sciences, Graduate school of Frontier Sciences, The University of Tokyo, Tokyo, Japan. kmatsuda@edu.k.u-tokyo.ac.jp.ORCID http://orcid.org/0000-0001-7292-2686
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan. yokada@sg.med.osaka-u.ac.jp.ORCID http://orcid.org/0000-0002-0311-8472
Funding
Optimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2MSOFTWARE FOR LARGE-SCALE INFERENCE OF THE GENETICS OF LIFESTYLE MEASURES, BIOMARKERS, AND COMMON AND RARE DISEASESR01HG010140 · NHGRI · STANFORD UNIVERSITY · PI KUNDAJE, ANSHUL, MONTGOMERY, STEPHEN · 2018 to 2022
$2.0MMedical Research Council MC_PC_17228Medical Research Council MC_QA137853NHGRI NIH HHS R01 HG010140NHGRI NIH HHS U01 HG009080
Abstract
Current genome-wide association studies do not yet capture sufficient diversity in populations and scope of phenotypes. To expand an atlas of genetic associations in non-European populations, we conducted 220 deep-phenotype genome-wide association studies (diseases, biomarkers and medication usage) in BioBank Japan (n = 179,000), by incorporating past medical history and text-mining of electronic medical records. Meta-analyses with the UK Biobank and FinnGen (n
Indexed as
Genetic Association StudiesGenetic Predisposition to DiseaseABO Blood-Group SystemBiological Specimen BanksGenetic LociGenetic PleiotropyGenome-Wide Association StudyHumansMajor Histocompatibility ComplexMeta-Analysis as TopicMutationPhenotypeABO Blood-Group System
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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.