ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Sex differences in thyroid aging and their implications in thyroid disorders: insights from gene regulatory networks.bioRxiv : the preprint server for biology · 2025Article
- Vitamin C in the Management of Thyroid Cancer: A Highway to New Treatment?Antioxidants (Basel, Switzerland) · 2024Review
- 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
- [MiR-671-5p negatively regulates SMAD3 to inhibit migration and invasion of osteosarcoma cells].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2021Article
- On transformative adaptive activation functions in neural networks for gene expression inference.PloS one · 2021Article
- On tower and checkerboard neural network architectures for gene expression inference.BMC genomics · 2020Article
- Characterizing the function of EPB41L4A in the predisposition to papillary thyroid carcinoma.Scientific reports · 2020Article
- FOXE1 regulates migration and invasion in thyroid cancer cells and targets ZEB1.Endocrine-related cancer · 2020Article
- Knockdown of SMAD3 inhibits the growth and enhances the radiosensitivity of lung adenocarcinoma via p21International journal of biological sciences · 2020Article
- Identification of Rare Variants Predisposing to Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2019Article
- Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.Genes · 2019Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo identify and characterize the functional variants, regulatory gene networks, and potential binding targets of SMAD3 in the 15q22 thyroid cancer risk locus.
methodsWe performed linkage disequilibrium (LD) and haplotype analyses to fine map the 15q22 locus. Luciferase reporter assays were applied to evaluate the regulatory effects of the candidate variants. Knockdown by small interfering RNA, microarray analysis, chromatin immunoprecipitation (ChIP) and quantitative real-time polymerase chain reaction assays were performed to reveal the regulatory gene network and identify its binding targets.
resultsWe report a 25.6-kb haplotype within SMAD3 containing numerous single-nucleotide polymorphisms (SNPs) in high LD. SNPs rs17293632 and rs4562997 were identified as functional variants of SMAD3 by luciferase assays within the LD region. These variants regulate SMAD3 transcription in an allele-specific manner through enhancer elements in introns of SMAD3. Knockdown of SMAD3 in thyroid cancer cell lines revealed its regulatory gene network including two upregulated genes, SPRY4 and SPRY4-IT1. Sequence analysis and ChIP assays validated the actual binding of SMAD3 protein to multiple SMAD binding element sites in the region upstream of SPRY4.
conclusionOur data provide a functional annotation of the 15q22 thyroid cancer risk locus.
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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.