ArticleNature communications2023
Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 4 of them syntheses that pooled it.
What it found
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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
16 citing papers in PubMed, 4 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.Nature genetics · 2026Pooled it
- Genome-wide association study and polygenic risk prediction of hypothyroidism.Nature genetics · 2025Pooled it
- Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.Nature communications · 2025Pooled it
- Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.Nature genetics · 2025Pooled it
- Arrhythmia and cardiomyopathy risk in Taiwan with complementary biobank evidence on thyroid genetic susceptibility: an integrative population-based framework.Endocrine connections · 2026Article
- A large-scale multi-ancestry mitochondrial variant association analysis for cardiometabolic traits.Nature communications · 2026Article
- A genome-wide interaction study of thyroid-stimulating hormone levels and particulate matter exposure among Koreans.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2026Article
- Impact ofArchives of medical science : AMS · 2026Article
- Genetic risk score informed re-evaluation of phenotype quality control to maximise power in epidemiological studies: application to lung function.International journal of population data science · 2026Article
- Multi-omics integration reveals Chr1 associated QTL mediating backfat thickness in pigs.Journal of animal science and biotechnology · 2025Article
- The Estonian Biobank's journey from biobanking to personalized medicine.Nature communications · 2025Review
- A Two-Way Mendelian Randomization Analysis on the Link between Thyroid Activity Function and Coronary Atherosclerosis.Reviews in cardiovascular medicine · 2024Article
- Tyrosine Protein Kinase SYK-Related Gene Signature in Baseline Immune Cells Associated with Adjuvant Immunotherapy-Induced Immune-Related Adverse Events in Melanoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies.Nature communications · 2024Article
- Hyperthyroidism, hypothyroidism, thyroid stimulating hormone, and dementia risk: results from the NHANES 2011-2012 and Mendelian randomization analysis.Frontiers in aging neuroscience · 2024Article
- The relationship between subclinical hypothyroidism and invasive papillary thyroid cancer.Frontiers in endocrinology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors at 5 institutions in 3 countries.
Funding
Abstract
Thyroid hormones play a critical role in regulation of multiple physiological functions and thyroid dysfunction is associated with substantial morbidity. Here, we use electronic health records to undertake a genome-wide association study of thyroid-stimulating hormone (TSH) levels, with a total sample size of 247,107. We identify 158 novel genetic associations, more than doubling the number of known associations with TSH, and implicate 112 putative causal genes, of which 76 are not previously implicated. A polygenic score for TSH is associated with TSH levels in African, South Asian, East Asian, Middle Eastern and admixed American ancestries, and associated with hypothyroidism and other thyroid disease in South Asians. In Europeans, the TSH polygenic score is associated with thyroid disease, including thyroid cancer and age-of-onset of hypothyroidism and hyperthyroidism. We develop pathway-specific genetic risk scores for TSH levels and use these in phenome-wide association studies to identify potential consequences of pathway perturbation. Together, these findings demonstrate the potential utility of genetic associations to inform future therapeutics and risk prediction for thyroid diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.