Towards Genetic Dissection of Skeletal Class III Malocclusion: A Review of Genetic Variations Underlying the Phenotype in Humans and Future Directions
Abstract
:1. Introduction
Objectives
2. Methods
3. Results
3.1. Clinical Outcomes of the Phenotype and Their Direct Impact on the Treatment
3.2. Mechanical and Surgical Treatments of Skeletal Class III Malocclusion
3.3. Current Constraints of Genetic Analysis
3.4. Genome-Wide Association Studies (GWAS)
3.4.1. Epigenetic and Skeletal Class III Malocclusion
3.4.2. Differential Expression Levels of RNA Skeletal Class III Malocclusion
Frequency of Gene in Search | Gene Symbol | Name of Gene | Reference (s) |
---|---|---|---|
4 | MATN1 | matrilin 1 | [28,31,59,60] |
2 | COL2A1 | collagen type II alpha 1 chain | [61,62] |
FGFR2 | fibroblast growth factor receptor 2 | [63,64] | |
KAT6B | lysine acetyltransferase 6B | [44] | |
MYO1H | myosin IH | [65,66] | |
PLXNA2 | plexin A2 | [29,67] | |
SSX2IP | SSX family member 2 interacting protein | [37,68] | |
1 | ADAMTS1 | ADAM metallopeptidase with thrombospondin type 1 motif 1 | [69] |
ADAMTSL1 | ADAMTS like 1 | [70] | |
ALPL | alkaline phosphatase, biomineralization associated | [28] | |
ARHGAP21 | Rho GTPase activating protein 21 | [40] | |
BEST3 | bestrophin 3 | [71] | |
C1orf167 | chromosome 1 open reading frame 167 | [72] | |
CALN1 | calneuron 1 | [37] | |
COL1A1 | collagen type I alpha 1 chain | [63] | |
DUSP6 | dual specificity phosphatase 6 | [38] | |
EP300 | E1A binding protein p300 | [73] | |
EPB41 | erythrocyte membrane protein band 4.1 | [12] | |
ERLEC1 | endoplasmic reticulum lectin 1 | [74] | |
EVC | EvC ciliary complex subunit 1 | [75] | |
EVC2 | EvC ciliary complex subunit 2 | [75] | |
FGF12 | fibroblast growth factor 12 | [76] | |
FGF20 | fibroblast growth factor 20 | [76] | |
FGF23 | fibroblast growth factor 23 | [77] | |
FGF3 | fibroblast growth factor 3 | [78] | |
FGFR1 | fibroblast growth factor receptor 1-A | [76] | |
FOXO3 | forkhead box O3 | [79] | |
GHR | growth hormone receptor | [80] | |
GLI2 | GLI family zinc finger 2 | [81] | |
HDAC4 | histone deacetylase 4 | [44] | |
HOXC | homeobox C cluster | [29] | |
HSPG2 | heparan sulfate proteoglycan 2 | [28] | |
IGF1 | insulin-like growth factor 1 | [29] | |
JAG1 | jagged canonical Notch ligand 1 | [73] | |
LTBP2 | latent transforming growth factor beta binding protein 2 | [82] | |
MMP13 | matrix metallopeptidase 13 | [29] | |
MYH1 | myosin heavy chain 1 | [79] | |
MYH8 | myosin heavy chain 8 | [79] | |
NBPF8 | NBPF member 8 | [72] | |
NBPF9 | NBPF member 9 | [72] | |
NCOR2 | nuclear receptor corepressor 2 | [73] | |
NFATC1 | nuclear factor of activated T cells 1 | [79] | |
NOTCH3 | notch receptor 3 | [73] | |
NOTCH4 | notch receptor 4 | [73] | |
NUMB | NUMB endocytic adaptor protein | [73] | |
PSEN2 | presenilin 2 | [73] | |
RASA2 | RAS p21 protein activator 2 | [37] | |
RORA | RAR related orphan receptor A | [37] | |
SMAD6 | SMAD family member 6 | [36] | |
TBX5 | T-box transcription factor 5 | [63] | |
TCF21 | transcription factor 21 | [37] | |
TGFB3 | transforming growth factor beta 3 | [82] | |
WNT3A | Wnt family member 3A | [36] |
4. Discussion
4.1. Gene Identifications and Validations
Future Directions for Thoroughly Analyzing the Complex Human Class III Malocclusion Genes
5. Conclusions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Pathway Identifier | Pathway Name | Submitted Entities Found |
---|---|---|
R-HSA-5663202 | Diseases of signal transduction by growth factor receptors and second messengers | HDAC4; JAG1; WNT3A; PSEN2; FOXO3; DUSP6; FGF3; NCOR2; ERLEC1; FGF20; EP300; FGF23; FGFR2; FGFR1 |
R-HSA-1226099 | Signaling by FGFR in disease | FGF20; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-1839126 | FGFR2 mutant receptor activation | FGF20; FGF23; FGFR2; FGF3 |
R-HSA-2428928 | IRS-related events triggered by IGF1R | FGF20; IGF1; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-2428924 | IGF1R signaling cascade | FGF20; IGF1; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-2404192 | Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) | FGF20; IGF1; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-5655253 | Signaling by FGFR2 in disease | FGF20; FGF23; FGFR2; FGF3 |
R-HSA-109704 | PI3K Cascade | FGF20; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-112399 | IRS-mediated signaling | FGF20; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-5654221 | Phospholipase C-mediated cascade; FGFR2 | FGF20; FGF23; FGFR2; FGF3 |
R-HSA-190241 | FGFR2 ligand binding and activation | FGF20; FGF23; FGFR2; FGF3 |
R-HSA-74751 | Insulin receptor signaling cascade | FGF20; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-5654695 | PI-3K cascade:FGFR2 | FGF20; FGF23; FGFR2; FGF3 |
R-HSA-5654699 | SHC-mediated cascade:FGFR2 | FGF20; FGF23; FGFR2; FGF3 |
R-HSA-5654700 | FRS-mediated FGFR2 signaling | FGF20; FGF23; FGFR2; FGF3 |
R-HSA-157118 | Signaling by NOTCH | NCOR2; HDAC4; NOTCH3; JAG1; NOTCH4; PSEN2; NUMB; EP300 |
R-HSA-2219528 | PI3K/AKT signaling in cancer | FGF20; FOXO3; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-2219530 | Constitutive Signaling by aberrant PI3K in cancer | FGF20; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-74752 | Signaling by insulin receptor | FGF20; FGF23; FGFR2; FGF3; FGFR1 |
R-HSA-5654727 | Negative regulation of FGFR2 signaling | FGF20; FGF23; FGFR2; FGF3 |
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Share and Cite
Zohud, O.; Lone, I.M.; Midlej, K.; Obaida, A.; Masarwa, S.; Schröder, A.; Küchler, E.C.; Nashef, A.; Kassem, F.; Reiser, V.; et al. Towards Genetic Dissection of Skeletal Class III Malocclusion: A Review of Genetic Variations Underlying the Phenotype in Humans and Future Directions. J. Clin. Med. 2023, 12, 3212. https://doi.org/10.3390/jcm12093212
Zohud O, Lone IM, Midlej K, Obaida A, Masarwa S, Schröder A, Küchler EC, Nashef A, Kassem F, Reiser V, et al. Towards Genetic Dissection of Skeletal Class III Malocclusion: A Review of Genetic Variations Underlying the Phenotype in Humans and Future Directions. Journal of Clinical Medicine. 2023; 12(9):3212. https://doi.org/10.3390/jcm12093212
Chicago/Turabian StyleZohud, Osayd, Iqbal M. Lone, Kareem Midlej, Awadi Obaida, Samir Masarwa, Agnes Schröder, Erika C. Küchler, Aysar Nashef, Firas Kassem, Vadim Reiser, and et al. 2023. "Towards Genetic Dissection of Skeletal Class III Malocclusion: A Review of Genetic Variations Underlying the Phenotype in Humans and Future Directions" Journal of Clinical Medicine 12, no. 9: 3212. https://doi.org/10.3390/jcm12093212