SynthesisNature genetics2026
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.
Abstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 2 pooled it
–field-weighted citation impact
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
4 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetic drivers of etiologic heterogeneity in thyroid cancer.Nature communications · 2026Pooled it
- Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.Nature genetics · 2026Pooled it
- The genetics behind thyroid disease.Nature reviews. Endocrinology · 2026Article
- Enabling reproducible type 1 diabetes polygenic risk scoring for clinical and translational applications.medRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
- Update of
Authors and funding
91 authors.
Samantha L WhiteDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.ORCID 0009-0002-8586-7668
Maizy S BrasherDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.
Jack PatteeCenter for Innovative Design & Analysis, Colorado School of Public Health, University of Colorado Anschutz, Aurora, CO, USA.
Wei ZhouProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-7719-0859
Sinéad ChapmanThe Broad Institute, Cambridge, MA, USA.ORCID 0000-0002-9454-2737
Yon Ho JeeDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID 0000-0003-4686-2186
Caitlin C BellDivision of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz, Aurora, CO, USA.
Taylor L JamilDepartment of Otolaryngology, Head and Neck Surgery, University of Colorado Anschutz, Aurora, CO, USA.
Martin BarrioDivision of GI, Trauma, and Endocrine Surgery, Department of Surgery, University of Colorado Anschutz, Aurora, CO, USA.
Christopher H ArehartInstitute for Behavioral Genetics, University of Colorado Boulder, Boulder, CO, USA.ORCID 0009-0001-9575-8329
Luke M EvansInstitute for Behavioral Genetics, University of Colorado Boulder, Boulder, CO, USA.ORCID 0000-0002-7458-1720
Jibril HirboDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-8932-7311
Nancy J CoxDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Peter StraubDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Shinichi NambaDepartment of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID 0000-0002-7486-3146
Emily Bertucci-RichterDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Lindsay GuareDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0001-6988-5319
Ahmed EdrisNuffield Department of Population Health, University of Oxford, Oxford, UK.
Sam MorrisNuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID 0000-0003-4067-1100
Ashley J MulfordGenomic Health Initiative, Endeavor Health Research Institute, Evanston, IL, USA.
Haoyu ZhangDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.ORCID 0009-0005-6025-0217
Brian FennessyThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-6222-6190
Martin D TobinDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.
Jing ChenDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.ORCID 0000-0003-1287-1930
Alexander T WilliamsDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.
Catherine JohnDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.
David A van HeelBlizard Institute, Queen Mary University of London, London, UK.ORCID 0000-0002-0637-2265
Rohini MathurWolfson Institute of Population Health, Queen Mary University of London, London, UK.
Sarah FinerWolfson Institute of Population Health, Queen Mary University of London, London, UK.ORCID 0000-0002-2684-4653
Marta R MoksnesHUNT Center for Molecular and Clinical Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.ORCID 0000-0002-2690-5153
Ben M BrumptonHUNT Center for Molecular and Clinical Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.ORCID 0000-0002-3058-1059
Bjørn Olav ÅsvoldHUNT Center for Molecular and Clinical Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.ORCID 0000-0003-3837-2101
Raitis PeculisLatvian Biomedical Research and Study Centre, Riga, Latvia.
Vita RoviteLatvian Biomedical Research and Study Centre, Riga, Latvia.
Ilze KonradeDepartment of Internal Medicine, Riga Stradins University, Riga, Latvia.
Ying WangProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-7808-6279
Kristy CrooksColorado Center for Personalized Medicine, University of Colorado Anschutz, Aurora, CO, USA.
Sameer ChavanColorado Center for Personalized Medicine, University of Colorado Anschutz, Aurora, CO, USA.
Matthew J FisherColorado Center for Personalized Medicine, University of Colorado Anschutz, Aurora, CO, USA.
Nicholas RafaelsColorado Center for Personalized Medicine, University of Colorado Anschutz, Aurora, CO, USA.
Meng LinDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.
Jonathan A ShorttDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.ORCID 0000-0002-7980-5420
Alan R SandersGenomic Health Initiative, Endeavor Health Research Institute, Evanston, IL, USA.ORCID 0000-0001-6629-4011
David C WhitemanQIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Stuart MacGregorQIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Sarah E MedlandQIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Unnur ThorsteinsdóttirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Kári StefánssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0003-1676-864X
Tugce KaraderiDepartment of Public Health, Faculty of Health and Medical Sciences, Center for Health Data Science, Section for Health Data Science and Artificial Intelligence, University of Copenhagen, Copenhagen, Denmark.
Kathleen M EganDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA.
Therese BocklageUniversity of Kentucky Markey Cancer Center, Lexington, KY, USA.
Hilary C McCraryUniversity of Utah Huntsman Cancer Institute, Salt Lake City, UT, USA.
Gregory RiedlingerRutgers Cancer Institute, New Brunswick, NJ, USA.
Bodour SalhiaNorris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Craig ShriverMurtha Cancer Center, Uniformed Services University/Walter Reed National Military Medical Center, Bethesda, MD, USA.
Minh D PhanUniversity of Oklahoma Stephenson Cancer Center, Oklahoma City, OK, USA.
Janice L FarlowIndiana University School of Medicine, Indianapolis, IN, USA.
Stephen EdgeRoswell Park Comprehensive Cancer Center, Buffalo, NY, USA.
Varinder KaurUniversity of Virginia Cancer Center, Charlottesville, VA, USA.ORCID 0000-0002-6480-7204
Michelle L ChurchmanAster Insights, Hudson, FL, USA.ORCID 0000-0002-6560-1056
Robert J RounbehlerAster Insights, Hudson, FL, USA.
Pamela L BrockThe Ohio State University Comprehensive Cancer Center and the Ohio State University College of Medicine, Columbus, OH, USA.ORCID 0000-0002-1549-5363
Matthew D RingelThe Ohio State University Comprehensive Cancer Center and the Ohio State University College of Medicine, Columbus, OH, USA.
Milton PividoriDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.ORCID 0000-0002-3035-4403
Rebecca SchweppeDivision of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz, Aurora, CO, USA.
Christopher D RaeburnDivision of GI, Trauma, and Endocrine Surgery, Department of Surgery, University of Colorado Anschutz, Aurora, CO, USA.
Robin G WaltersNuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID 0000-0002-9179-0321
Zhengming ChenNuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID 0000-0001-6423-105X
Liming LiDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China.ORCID 0000-0001-5873-7089
Koichi MatsudaLaboratory of Genome Technology, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.ORCID 0000-0001-7292-2686
Yukinori OkadaDepartment of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID 0000-0002-0311-8472
Sebastian ZöllnerDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0001-7362-156X
Anurag VermaDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-5063-9107
Penn Medicine BioBank
Michael H PreussThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-5266-8465
Eimear KennyThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Audrey E HendricksDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.ORCID 0000-0002-7152-0287
Lauren FishbeinDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID 0000-0002-4472-8103
Mark J DalyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-0949-8752
Benjamin M NealeProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1513-6077
Virtual Thyroid Biopsy Consortium
Colorado Center for Personalized Medicine
Genes & Health Research Team
BioBank Japan Project
Alicia R MartinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-0241-3522
Joanne B ColeDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA.ORCID 0000-0001-9520-2788
Bryan R HaugenDivision of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz, Aurora, CO, USA.
Global Biobank Meta-analysis Initiative
Christopher R GignouxDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA. chris.gignoux@cuanschutz.edu.ORCID 0000-0001-9728-6567
Nikita PozdeyevDepartment of Biomedical Informatics, University of Colorado Anschutz, Aurora, CO, USA. nikita.pozdeyev@cuanschutz.edu.ORCID 0000-0001-8574-1972
Funding
NIH Prior Approval Process ProfessionalUL1TR002535 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2018 to 2022
$51.1MUniversity of Kentucky Markey Cancer Center Support Grant ECIA SupplementP30CA177558 · NCI · UNIVERSITY OF KENTUCKY · PI Jennifer F Rogers · 2013 to 2026
$38.3MColorado Adoption/Twin Study of Lifespan behavioral development & cognitive aging (CATSLife2)R01AG046938 · NIA · UNIVERSITY OF COLORADO · PI REYNOLDS, CHANDRA A, WADSWORTH, SALLY J · 2015 to 2024
$18.5MComputational approaches to characterize heterogeneity and improve risk stratification in complex disease phenotypesR00HG011898 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI PIVIDORI, MILTON · 2023 to 2025
$747kAn integrative approach to disease gene discovery combining genetic variation, gene expression, and epigenetics.R00HG012222 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Wei Zhou · 2024 to 2026
$747kColorado Clinician Scientist Training ProgramR25DC021948 · NIDCD · UNIVERSITY OF COLORADO DENVER · PI Yuri Agrawal, Sue C. Kinnamon · 2024 to 2026
$498kGenetic architecture of thyroid cancer and its clinical utilityR21CA282380 · NCI · UNIVERSITY OF COLORADO DENVER · PI GIGNOUX, CHRISTOPHER R, POZDEYEV, NIKITA · 2024 to 2025
$401kBLRD VA I01 BX006252Colorado University | UC Denver | Colorado Clinical and Translational Sciences Institute (CCTSI) CO-J-24-170NCATS NIH HHS UL1 TR002535NCI NIH HHS P30 CA177558NCI NIH HHS R21 CA282380NHGRI NIH HHS R00 HG011898NHGRI NIH HHS R00 HG012222NIA NIH HHS R01 AG046938NIDCD NIH HHS R25 DC021948Novo Nordisk Fonden (Novo Nordisk Foundation) NNF20OC0062294U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) 1R21CA282380U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R00HG011898Wellcome Trust
Abstract
Thyroid diseases are common and highly heritable. We performed a meta-analysis of genome-wide association studies from 19 biobanks for five thyroid diseases: thyroid cancer (ThC), benign nodular goiter, Graves' disease, lymphocytic thyroiditis and primary hypothyroidism. We analyzed genetic association data from ~2.9 million genomes and identified 313 known and 570 new independent loci linked to thyroid diseases. We discovered genetic correlations between ThC, benign nodular goiter and autoimmune thyroid diseases (rg = 0.16-0.97). Telomere maintenance genes contributed to benign and malignant thyroid nodular disease risk, whereas cell cycle, DNA repair and damage response genes were associated with ThC. We propose a paradigm that explains genetic predisposition to benign and malignant thyroid nodules. We found polygenic risk score associations with ThC risk of structural disease recurrence, tumor size, multifocality, lymph node metastases and extranodal extension. Polygenic risk scores identified individuals with aggressive ThC in a biobank, creating an opportunity for genetically informed population screening.
Indexed as
Genetic Risk ScoreGenome-Wide Association StudyThyroid DiseasesThyroid NeoplasmsHumansPolymorphism, Single Nucleotide
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