SynthesisNature genetics2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Erratum issuedAbstract readMeta-Analysis
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Synthesis in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 26 papers.
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26citing papers in PubMed
–field-weighted citation impact
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Who cites it
26 citing papers in PubMed.
- Clinical impact of metagenomic next-generation sequencing for pathogen identification and guided therapy in pediatric intensive care unit patients with severe pulmonary infections.Microbiology spectrum · 2026Article
- Genetic and genomic insights across the steatotic liver disease spectrum.Clinical and molecular hepatology · 2026Review
- The Interaction Between HDL-C Level and HNF4A rs4812829 on Incident Type 2 Diabetes Risk in a Chinese Cohort.Nutrients · 2026Article
- Evaluation of Sex-Stratified Polygenic Risk Scores for Type 2 Diabetes Mellitus and Glycemic Traits in the Framingham Heart Study.Diabetes & metabolism journal · 2026Article
- Polygenic background contributes to GCK-MODY clinical presentation and glycaemic variability.Diabetologia · 2026Article
- Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.The Journal of clinical endocrinology and metabolism · 2026Article
- Sequencing and health data resource of children of African ancestry.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.EMBO molecular medicine · 2026Article
- Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes.Frontiers in endocrinology · 2026Article
- BeyondFrontiers in genetics · 2026Review
- Interactions with polygenic background impact quantitative traits in the UK Biobank.medRxiv : the preprint server for health sciences · 2025Article
- Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants.medRxiv : the preprint server for health sciences · 2025Article
- X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies.BMC genomics · 2025Article
- Identification of novel type 1 and type 2 diabetes genes by co-localization of human islet eQTL and GWAS variants with colocRedRibbon.Cell genomics · 2025Article
- Stratifying variant deleteriousness and trait-modulating effect under human recent adaptation using the FIND model.Genome biology · 2025Article
- Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.Nature metabolism · 2025Article
- Diabetes mellitus polygenic risk scores: heterogeneity and clinical translation.Nature reviews. Endocrinology · 2025Review
- Polygenic determinants of monogenic diabetes.Nature metabolism · 2025Article
- Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.European journal of endocrinology · 2025Review
- The Complex Gene-Carbohydrate Interaction in Type 2 Diabetes: Between Current Knowledge and Future Perspectives.Nutrients · 2025Review
Corrections and comments
- Erratum issued
- Erratum issued
- Update of
Authors and funding
26 authors.
Alicia Huerta-Chagoya *Programs in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Philip Schroeder *Programs in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Ravi Mandla *Programs in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Jiang Li *Department of Genomic Health, Geisinger, Danville, PA, USA.
Lowri MorrisSection of Genetics and Genomics, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.
Maheak VoraPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Ahmed AlkanaqPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Dorka NagySection of Genetics and Genomics, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.
Lukasz SzczerbinskiPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Jesper G S MadsenInstitute of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark.ORCID http://orcid.org/0000-0002-0518-0800
Silvia Bonàs-GuarchCentre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain.ORCID http://orcid.org/0000-0002-2085-7488
Fanny MollandinCentre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain.ORCID http://orcid.org/0000-0003-0806-1062
Joanne B ColePrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9520-2788
Bianca PornealaDivision of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA.
Kenneth WestermanPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Josephine H LiPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-2314-0914
Toni I PollinUniversity of Maryland, School of Medicine, Baltimore, MD, USA.
Jose C FlorezPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1730-9325
Anna L GloynDepartment of Pediatrics, Division of Endocrinology, Stanford School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0003-1205-1844
David J CareyDepartment of Genomic Health, Geisinger, Danville, PA, USA.
Inês CebolaSection of Genetics and Genomics, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, UK.ORCID http://orcid.org/0000-0003-3528-4982
Uyenlinh L MirshahiDepartment of Genomic Health, Geisinger, Danville, PA, USA.ORCID http://orcid.org/0000-0003-4972-5451
Alisa K ManningPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-0247-902X
Aaron LeongPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Miriam UdlerPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3824-9162
Josep M MercaderPrograms in Metabolism and Medical & Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. mercader@broadinstitute.org.ORCID http://orcid.org/0000-0001-8494-3660
Funding
Technology to Empower Changes in Health (TECH) Network Participant Technologies CenterU24OD023176 · OD · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2016 to 2022
$204.7MPrecision Medicine Initiative Cohort Program BiobankU24OD023121 · OD · MAYO CLINIC ROCHESTER · PI CEKANOVA, MARIA, CICEK, MINE · 2016 to 2024
$185.5MEnhancing All of Us Data Resources for Nutrition Precision Health: the All of Us Data and Research CenterU2COD023196 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, DAVID, HARRIS, PAUL A. · 2016 to 2022
$143.7MAdaptive Platform for Personalized EngagementU24OD023163 · OD · VIGNET, INC. · PI JAIN, PRADUMAN · 2017 to 2020
$102.6MUniversity of Arizona-Banner Health All of Us Research Program OT2OD026549 · OD · UNIVERSITY OF ARIZONA · PI MORENO, FRANCISCO A, REIMAN, ERIC MICHAEL · 2018 to 2023
$78.9MCalifornia Precision Medicine Research Program ConsortiumOT2OD026552 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANTON-CULVER, HODA A, OHNO-MACHADO, LUCILA · 2018 to 2023
$73.4MAll of Us PennsylvaniaOT2OD026554 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E, VISWESWARAN, SHYAM · 2018 to 2023
$72.1MNew York City Consortium for Precision MedicineOT2OD026556 · OD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BIER, LOUISE E, GHARAVI, ALI G · 2018 to 2023
$67.3MSouthEast Enrollment Center (SEEC) OT2OD026551 · OD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CARRASQUILLO, OLVEEN, COLON, VIVIAN · 2018 to 2023
$62.8MSouthern All of Us NetworkOT2OD026548 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI FOUAD, MONA N., KORF, BRUCE R · 2018 to 2023
$60.5MIllinois Precision Medicine Consortium OT2OD026557 · OD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI AHSAN, HABIBUL, ARGOS, MARIA · 2018 to 2023
$60.5MThe New England Precision Medicine Consortium of the All of Us Research ProgramOT2OD026553 · OD · MASSACHUSETTS GENERAL HOSPITAL · PI CLARK, CHERYL RENEE, KARLSON, ELIZABETH W · 2018 to 2023
$58.8MDoris Duke Charitable Foundation 2022063NHGRI NIH HHS U01 HG011723NHLBI NIH HHS K24 HL157960NIDDK NIH HHS K23 DK131345NIDDK NIH HHS L30 DK106874NIDDK NIH HHS R01 DK140555NIDDK NIH HHS UM1 DK078616NIDDK NIH HHS UM1 DK126185NIH HHS OT2 OD023205NIH HHS OT2 OD023206NIH HHS OT2 OD025276NIH HHS OT2 OD025277NIH HHS OT2 OD025315NIH HHS OT2 OD025337NIH HHS OT2 OD026548NIH HHS OT2 OD026549NIH HHS OT2 OD026550NIH HHS OT2 OD026551NIH HHS OT2 OD026552NIH HHS OT2 OD026553NIH HHS OT2 OD026554NIH HHS OT2 OD026555NIH HHS OT2 OD026556NIH HHS OT2 OD026557NIH HHS U24 OD023121NIH HHS U24 OD023163NIH HHS U24 OD023176NIH HHS U2C OD023196U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG011723Wellcome Trust
Abstract
Type 2 diabetes (T2D) genome-wide association studies (GWASs) often overlook rare variants as a result of previous imputation panels' limitations and scarce whole-genome sequencing (WGS) data. We used TOPMed imputation and WGS to conduct the largest T2D GWAS meta-analysis involving 51,256 cases of T2D and 370,487 controls, targeting variants with a minor allele frequency as low as 5 × 10
Indexed as
Diabetes Mellitus, Type 2Genetic Predisposition to DiseaseGenome-Wide Association StudyCase-Control StudiesGene FrequencyGenetic VariationHepatocyte Nuclear Factor 4HumansPolymorphism, Single NucleotideWhole Genome SequencingHepatocyte Nuclear Factor 4HNF4A protein, human
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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.