biostudies-literatureWhite SLBLRD VAU.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI)Novo Nordisk Fonden (Novo Nordisk Foundation)NCATS NIH HHSNIA NIH HHSU.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)National Institute for Health Research (NIHR)NHGRI NIH HHSColorado University | UC Denver | Colorado Clinical and Translational Sciences Institute (CCTSI)NCI NIH HHSWellcome Trust307-316https://www.ebi.ac.uk/biostudies/studies/S-EPMC12900643biostudies-literatureUnknown58(2)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 thyrNature geneticsGlobal multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.PMC12900643R00 HG012222R00HG011898R01 AG046938R00 HG0118981R21CA282380NNF20OC0062294UL1 TR002535I01 BX006252CO-J-24-170R21 CA282380NIHR203327Kaur VJee YHPattee JStefansson KStraub PZhang HArehart CHMartin ARPozdeyev NSanders ARPividori MRafaels NShriver CRaeburn CDVerma AJamil TLColorado Center for Personalized MedicineGenes & Health Research TeamMedland SEEvans LMMoksnes MRChen ZWhite SLWang YJohn CMatsuda KFishbein LShortt JAPhan MDBell CCChen JRiedlinger GWalters RGKonrade ILi LGignoux CRSchweppe RChavan SMacGregor SBrock PLVirtual Thyroid Biopsy ConsortiumPenn Medicine BioBankvan Heel DAKraft PChurchman MLLin MThorsteinsdottir UGuare LMcCrary HCEdge SNeale BMTobin MDFisher MJZollner SDaly MJGlobal Biobank Meta-analysis InitiativeWhiteman DCHirbo JKaraderi TBioBank Japan ProjectSalhia BBrasher MSMorris SHaugen BRHendricks AEFiner SCox NJRingel MDBertucci-Richter ERounbehler RJBocklage TPreuss MHEgan KMFarlow JLZhou WKenny EBrumpton BMPeculis RMathur RCrooks KFennessy BOkada YEdris AChapman SNamba SBarrio MCole JBAsvold BORovite VMulford AJWilliams ATfalseGlobal multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.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 thyr2026-01-01T00:00:00Z2026 Feb2026-07-16T21:25:49.461Z2026-07-10T03:15:53.507ZS-EPMC129006434164466910.1038/s41588-025-02483-w