ArticlemedRxiv : the preprint server for health sciences2025
Global multi-ancestry genetic study elucidates genes and biological pathways associated with thyroid cancer and benign thyroid diseases.
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Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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86 authors.
Samantha L WhiteDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Maizy S BrasherDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Jack PatteeCenter for Innovative Design & Analysis, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Wei ZhouProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Sinéad ChapmanThe Broad Institute, Cambridge, MA, USA.
Yon Ho JeeDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Caitlin C BellDivision of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Taylor L JamilDepartment of Otolaryngology, Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Martin BarrioDivision of GI, Trauma, and Endocrine Surgery, Department of Surgery, University of Colorado School of Medicine, Aurora, CO, USA.
Jibril HirboDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
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, USAz.
Shinichi NambaDepartment of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
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.
Ahmed EdrisMohammedNuffield Department of Population Health, University of Oxford, Oxford, UK.
Sam MorrisNuffield Department of Population Health, University of Oxford, Oxford, UK.
Ashley J MulfordGenomic Health Initiative, Endeavor Health Research Institute, Evanston, IL, USA.
Haoyu ZhangDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Brian FennessyThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Martin D TobinDepartment of Population Health Sciences, University of Leicester, Leicester, UK.
Jing ChenDepartment of Population Health Sciences, University of Leicester, Leicester, UK.
Alexander T WilliamsDepartment of Population Health Sciences, University of Leicester, Leicester, UK.
Catherine JohnDepartment of Population Health Sciences, University of Leicester, Leicester, UK.
David A van HeelBlizard Institute, Queen Mary University of London, London E1 2AB, UK.
Rohini MathurWolfson Institute of Population Health, Queen Mary University of London, London E1 2AB, UK.
Sarah FinerWolfson Institute of Population Health, Queen Mary University of London, London E1 2AB, UK.
Marta Riise MoksnesHUNT Research Centre, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Levanger, Norway.
Ben BrumptonHUNT Research Centre, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Levanger, Norway.
Bjørn Olav ÅsvoldHUNT Research Centre, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Levanger, Norway.
Raitis PeculisLatvian Biomedical Research and Study Centre, Ratsupites 1-1, Riga, LV-1067, Latvia.
Vita RoviteLatvian Biomedical Research and Study Centre, Ratsupites 1-1, Riga, LV-1067, Latvia.
Ilze KonradeDepartment of Internal Medicine, Riga Stradins University, Dzirciema Str 16, LV-1007 Riga, Latvia.
Ying WangProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kristy CrooksColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Sameer ChavanColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Matthew J FisherColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Nicholas RafaelsColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Meng LinDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Jonathan ShorttDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Alan R SandersGenomic Health Initiative, Endeavor Health Research Institute, Evanston, IL, USA.
David WhitemanQIMR Berghofer Medical Research Institute: Herston, QLD, AU.
Stuart MacGregorQIMR Berghofer Medical Research Institute: Herston, QLD, AU.
Sarah MedlandQIMR Berghofer Medical Research Institute: Herston, QLD, AU.
Unnur ThorsteinsdóttirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Kári StefánssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Tugce KaraderiCenter for Health Data Science, Section for Health Data Science and Artificial Intelligence, Department of Public Health, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Kathleen M EganMoffitt Cancer Center.
Therese BocklageUniversity of Kentucky Markey Cancer Center.
Hilary C McCraryUniversity of Utah Huntsman Cancer Institute.
Greg RiedlingeerRutgers Cancer Institute of New Jersey Department of Medicine, Division of Medical Oncology, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA.
Bodour SalhiaNorris Comprehensive Cancer Center and Keck School of Medicine of University of Southern California.
Craig ShriverMuthra Cancer Center.
Minh D PhanUniversity of Oklahoma Stephenson Cancer Center.
Janice L FarlowIndiana University School of Medicine, Indianapolis, Indiana.
Stephen EdgeRoswell Park Comprehensive Cancer Center.
Varinder KaurUniversity of Virginia Cancer Center.
Michelle ChurchmanAster Insights, Hudson, FL, USA.
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.
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 Medical Campus, Aurora, CO, USA.
Rebecca SchweppeDivision of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Christopher D RaeburnDivision of GI, Trauma, and Endocrine Surgery, Department of Surgery, University of Colorado School of Medicine, Aurora, CO, USA.
Robin WaltersNuffield Department of Population Health, University of Oxford, Oxford, UK.
Zhengming ChenNuffield Department of Population Health, University of Oxford, Oxford, UK.
Liming LiDepartment of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China.
Koichi MatsudaLaboratory of Genome Technology, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
Yukinori OkadaDepartment of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Sebastian ZoellnerDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Anurag VermaDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Michael PreussThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Eimear KennyThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Audrey HendricksDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Lauren FishbeinDivision of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Mark DalyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Benjamin NealeProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
biobank at the Colorado Center for Personalized Medicine
Genes & Health Research Team
BioBank Japan Project
Alicia MartinAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Joanne B ColeDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Bryan R HaugenDivision of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Christopher R GignouxHuman Medical Genetics and Genomics Program, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0001-9728-6567
Nikita PozdeyevDepartment of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0001-8574-1972
Funding
CTSA UM1 Program at University of UtahUM1TR004409 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RACHEL HESS, Jennifer Juhl Majersik · 2023 to 2026
$21.9MComputational approaches to characterize heterogeneity and improve risk stratification in complex disease phenotypesR00HG011898 · NHGRI · UNIVERSITY OF COLORADO DENVER · PI PIVIDORI, MILTON · 2023 to 2025
$747kGenetic 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 BX006252NCATS NIH HHS UM1 TR004409NCI NIH HHS R21 CA282380NHGRI NIH HHS R00 HG011898Wellcome Trust
Abstract
Thyroid diseases are common and highly heritable. Under the Global Biobank Meta-analysis Initiative, we performed a meta-analysis of genome-wide association studies from 19 biobanks for five thyroid diseases: thyroid cancer, benign nodular goiter, Graves' disease, lymphocytic thyroiditis, and primary hypothyroidism. We analyzed genetic association data from ~2.9 million genomes and identified 235 known and 501 novel independent variants significantly linked to thyroid diseases. We discovered genetic correlations between thyroid cancer, benign nodular goiter, and autoimmune thyroid diseases (
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