Genetics of Keloid Scarring
- PMID: 36351116
- Bookshelf ID: NBK586075
- DOI: 10.1007/978-3-030-44766-3_8
Genetics of Keloid Scarring
Excerpt
Keloid disease is a benign fibro-proliferative reticular dermal tumor that develops in response to dysregulated cutaneous wound-healing process. The key alterations result in keloid formation have not been fully understood yet.
Extensive literature review suggests that there is a strong genetic predisposition for keloid formation as keloid cases have appeared in twins, families, Asian and African descendant ethnic groups predominantly. Thus, there have been several attempts to investigate the genetic variations that may act as contributing factors in keloid pathogenesis, but no single genetic cause has been identified so far. Gene expression studies have shown highly variable results in linkage analysis of keloid families and in keloid fibroblasts. These findings provide clues that keloids arise from heterogeneous genetic events in coordination with immune-related components for example, the Major Histocompatibility Complex genes, consequently that may contributing towards dermal fibrosis. In addition, it is likely that multiple genetic and epigenetic factors are responsible for the development of the disease pathology. In summary, keloid disease is a disorder in which the exact genetic contribution to pathogenesis is yet to be elucidated. Understanding the genetic basis of keloid disease would help to identify targeted therapies as well as accurately assess individual genetic susceptibility to keloids, in order to provide a more personalized approach to their management.
Copyright 2020, The Author(s).
Sections
- 8.1. Background
- 8.2. HLA Immunogenetics
- 8.3. Linkage
- 8.4. Large-Scale Population Single-Nucleotide Polymorphism (SNP)
- 8.5. Gene Expression
- 8.6. MicroRNAs (miRNA)
- 8.7. Long noncoding RNA (lncRNA)
- 8.8. Small Interfering RNA (siRNA)
- 8.9. Microarray Analysis
- 8.10. Epigenetics
- 8.11. Mutations
- 8.12. Copy Number Variation
- 8.13. FISH (Fluorescence In Situ Hybridization)
- 8.14. Conclusions
- Acknowledgments
- Further Readings/Additional Resources
References
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- N. Jumper, T. Hodgkinson, R. Paus, A. Bayat. Site-specific gene expression profiling as a novel strategy for unravelling keloid disease pathobiology. PLoS ONE. 12(3):e0172955. https://doi.org/10.1371/journal.pone.0172955. - DOI - PMC - PubMed
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- Tabib T, Morse C, Wang T, Chen W, Lafyatis R. SRP2/DPP4 and FMO1/LSP1 Define major fibroblast populations in human skin. J Invest Dermatol. 2018;138(4):802–10. https://doi.org/10.1016/j.jid.2017.09.045 - DOI - PMC - PubMed
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- Sun HJ, Meng XY, Hu CT. MicroRNA-200c inhibits cell proliferation and collagen synthesis in human keloid fibroblasts via TGF-β/Smad pathway. Chinese J Aesthet Med. 2012;21:1539–42.
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- Xue Z, Lan D, Ning S, Ran L. miR-183 inhibits connective tissue growth factor (CTGF) production in TGF-β1-treated keloid fibroblasts in vitro. Int J Clin Exp Pathol. 2017;10(6):6425–34.
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