Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis
Open accessAbstract
Tooth agenesis (TA) is one of the most common developmental anomalies that affects the number of teeth. An extensive analysis of publicly accessible databases revealed 15 causative genes responsible for nonsyndromic TA, along with their signaling pathways in Wnt/β‐catenin, TGF‐β/BMP, and Eda/Edar/NF‐κB. However, genotype–phenotype correlation analysis showed that most of the causal genes are also responsible for syndromic TA or other conditions. In a total of 198 different mutations of the 15 genes responsible for nonsyndromic TA, 182 mutations (91.9%) are derived from seven genes ( AXIN2 , EDA , LRP6 , MSX1 , PAX9 , WNT10A, and WNT10B ) compared with the remaining 16 mutations (8.1%) identified in the remaining eight genes ( BMP4 , DKK1 , EDAR , EDARADD , GREM2 , KREMEN1 , LTBP3, and SMOC2 ). Furthermore, specificity analysis in terms of the ratio of nonsyndromic TA mutations versus syndromic mutations in each of the aforementioned seven genes showed a 98.2% specificity rate in PAX9 , 58.9% in WNT10A , 56.6% in MSX1 , 41.2% in WNT10B , 31.4% in LRP6 , 23.8% in AXIN2% , and 8.4% in EDA . These findings underscore an important role of the Wnt and Wnt‐associated pathways in the genetic etiology of this heterozygous disease and shed new lights on the discovery of novel molecular mechanisms associated with tooth agenesis.
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NF-κB interacts with other signaling pathways implicated in PD, such as the TGF-β and Wnt/β-catenin pathways.
“Moreover, NF-κB has been shown to interact with other signaling pathways implicated in PD, such as the TGF-β and Wnt/β-catenin pathways.”
From Research advances in Peyronie's disease: a comprehensive review on genomics, pathways, phenotypic manifestation, and therapeutic targets. (2024) · cites this paper as [70]
Section 5 (page unavailable) describes cross-links among the Wnt, TGF-β/BMP, and Eda/Edar/NF-κB pathways and specifically reports reciprocal control between Wnt/β-catenin and Eda/Edar/NF-κB. It discusses these interactions in tooth development and tooth agenesis, not in PD; that disease-specific part of the claim is unsupported. (LLM, conf=0.86)
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Background<i>Lrp6</i> Dynamic Expression in Tooth Development and Mutations in Oligodontia
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- Authors
- Yu, M., Wong, S., Han, D., & Cai, T.
- Affiliations
- Peking University (CN)
- University of North Carolina at Chapel Hill (US)
- National Institutes of Health (US)
- Corresponding author
- Han, Dong
- Cai, Tao
- Venue
- Oral Diseases
- Publisher
- Wiley
- Published
- 2018-07-23
- Volume
- 25
- Issue
- 3
- Pages
- 646-651
- ISSN
- 1354-523X (ISSN-L)
- 1601-0825
- PMC
- PMC6318069
- OpenAlex
- W2811276089
- Cited by
- 155
- References
- 26
- Citations by year
- 2026: 15 · 2025: 20 · 2024: 27 · 2023: 25 · 2022: 32 · 2021: 20 · 2020: 12 · 2019: 3 · 2018: 1
- FWCI
- 3.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Oral Diseases (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Dental and Craniofacial Research
- National Natural Science Foundation of China (81670949, R90DE022527)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Health Sciences › Medicine › Rheumatology › Bone and Dental Protein Studies
- Keywords
- tooth agenesis, Wnt/β-catenin signaling, TGF-β/BMP signaling, causal genes, genotype-phenotype correlation, PAX9, WNT10A, Wnt10b, MSX1, LRP6, Axin2, EDA, dental developmental anomalies
- MeSH terms
- Animals, Anodontia, Calcium-Binding Proteins, Humans, Membrane Proteins, Mutation, Proto-Oncogene Proteins, Cytokines, Transforming Growth Factor beta, NF-kappa B, Intercellular Signaling Peptides and Proteins, Wnt Proteins, PAX9 Transcription Factor, MSX1 Transcription Factor, Ectodysplasins, Edar Receptor, Edar-Associated Death Domain Protein, Latent TGF-beta Binding Proteins, Bone Morphogenetic Protein 4, Wnt Signaling Pathway, Axin Protein, Low Density Lipoprotein Receptor-Related Protein-6
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