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Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.

Nature genetics 2026 Vol.58(2) p. 307-316

White SL, Brasher MS, Pattee J, Zhou W, Chapman S, Jee YH, Bell CC, Jamil TL, Barrio M, Arehart CH, Evans LM, Hirbo J, Cox NJ, Straub P, Namba S, Bertucci-Richter E, Guare L, Edris A, Morris S, Mulford AJ, Zhang H, Fennessy B, Tobin MD, Chen J, Williams AT, John C, van Heel DA, Mathur R, Finer S, Moksnes MR, Brumpton BM, Åsvold BO, Peculis R, Rovite V, Konrade I, Wang Y, Crooks K, Chavan S, Fisher MJ, Rafaels N, Lin M, Shortt JA, Sanders AR, Whiteman DC, MacGregor S, Medland SE, Thorsteinsdóttir U, Stefánsson K, Karaderi T, Egan KM, Bocklage T, McCrary HC, Riedlinger G, Salhia B, Shriver C, Phan MD, Farlow JL, Edge S, Kaur V, Churchman ML, Rounbehler RJ, Brock PL, Ringel MD, Pividori M, Schweppe R, Raeburn CD, Walters RG, Chen Z, Li L, Matsuda K, Okada Y, Zöllner S, Verma A, Preuss MH, Kenny E, Hendricks AE, Fishbein L, Kraft P, Daly MJ, Neale BM, Martin AR, Cole JB, Haugen BR, Gignoux CR, Pozdeyev N

📝 환자 설명용 한 줄

Thyroid diseases are common and highly heritable.

🔬 핵심 임상 통계 (초록에서 자동 추출 — 원문 검증 권장)
  • 연구 설계 meta-analysis

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BibTeX ↓ RIS ↓
APA White SL, Brasher MS, et al. (2026). Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.. Nature genetics, 58(2), 307-316. https://doi.org/10.1038/s41588-025-02483-w
MLA White SL, et al.. "Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.." Nature genetics, vol. 58, no. 2, 2026, pp. 307-316.
PMID 41644669

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.

MeSH Terms

Humans; Genome-Wide Association Study; Thyroid Neoplasms; Genetic Predisposition to Disease; Thyroid Diseases; Multifactorial Inheritance; Polymorphism, Single Nucleotide; Graves Disease

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