Journal article
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases
- Abstract:
- Thyroid diseases are common and highly heritable. We performed a metaanalysis 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 313 known and 570 novel independent loci significantly linked to thyroid diseases. We discovered genetic correlations between thyroid cancer, 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 thyroid cancer. We proposed a paradigm explaining genetic predisposition to benign and malignant thyroid nodules. We found PRS associations with thyroid cancer risk of structural disease recurrence, tumor size, multifocality, lymph node metastases, and extranodal extension. PRS identified individuals with aggressive thyroid cancer in a biobank, creating an opportunity for genetically-informed population screening.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 4.9MB, Terms of use)
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- Publisher copy:
- 10.1038/s41588-025-02483-w
Authors
- Publisher:
- Springer Nature
- Journal:
- Nature Genetics More from this journal
- Volume:
- 58
- Issue:
- 2
- Pages:
- 307–316
- Publication date:
- 2026-02-05
- Acceptance date:
- 2025-12-12
- DOI:
- EISSN:
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1546-1718
- ISSN:
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1061-4036
- Language:
-
English
- Keywords:
- Pubs id:
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2357161
- Local pid:
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pubs:2357161
- Deposit date:
-
2026-01-08
- ARK identifier:
Terms of use
- Copyright holder:
- White et al
- Copyright date:
- 2026
- Rights statement:
- © 2026 The Authors. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
- Licence:
- CC Attribution (CC BY)
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