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Genetics and Epigenetics of Nasal Polyposis: a Systematic Review

Martin MJ1,2,3, Garcia-Sanchez A1,2,4, Estravis M1,2,4*, Gil-Melcón M5, Isidoro-Garcia M1,2,7,8, Sanz C1,2,9, Davila I1,2,4,6

1IBSAL, Institute of Biomedical Research of Salamanca, Salamanca
2Network for Cooperative Research in Health-RETICS ARADyAL, Salamanca
3Department of Biochemistry and Molecular Biology. University of Salamanca, Salamanca
4Department of Biomedical and Diagnostics Sciences. University of Salamanca, Salamanca
5Department of Otorhinolaryngology/ Servicio de Otorrinolaringología. Hospital Universitario de Salamanca, Salamancae
6Department of Immunoallergy/ Servicio de Inmunoalergia. Hospital Universitario de Salamanca, Salamanca
7Department of Clinical Biochemistry/Servicio de Bioquímica Clínica. Hospital Universitario de Salamanca, Salamanca
8Department of Medicine. University of Salamanca, Salamanca
9Department of Microbiology and Genetics. University of Salamanca. Salamanca

J Investig Allergol Clin Immunol 2021; Vol. 31(3)
doi: 10.18176/jiaci.0673

Chronic rhinosinusitis (CRS) is an inflammatory disease of the nose and paranasal sinuses, often associated with nasal polyps (CRSwNP) in the most severe cases. Like other complex diseases, genetics are thought to play an important role in the risk and development of the disease, and the environment may also contribute to modulate the epigenetic signature in the patients. In the present systematic review, we aimed at compiling all the published data about genetic and epigenetic variations in CRSwNP since 2000. We found 104 articles, 24 of them related to epigenetic studies. From these articles, we have identified more than 150 genetic variants in 99 genes involved in NP pathogenesis that were clustered into eight main networks, linking genes involved in inflammation, immune response, such as MHC, cytokine genes, or TNF; leukotriene metabolism, and extracellular matrix. A total of 89 miRNAs have been also identified, basically associated with biological functions such as cell cycle, inflammation, and immune response. We have also proposed a potential relationship between identified miRNAs and genes that may open new lines of investigation. The in-depth knowledge of gene variants and epigenetic traits could contribute to design more tailored treatment for CRSwNP patients.

Key words: Nasal polyps, Gene variants, Polymorphisms, Epigenetics, Chronic rhinosinusitis, Systematic review

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