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Current Understanding of Host Genetics of Otitis Media

The pathogenesis of otitis media (OM), an inflammatory disease of the middle ear (ME), involves interplay between many different factors, including the pathogenicity of infectious pathogens, host immunological status, environmental factors, and genetic predisposition, which is known to be a key dete...

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Autores principales: Geng, Ruishuang, Wang, Qingzhu, Chen, Eileen, Zheng, Qing Yin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7025460/
https://www.ncbi.nlm.nih.gov/pubmed/32117425
http://dx.doi.org/10.3389/fgene.2019.01395
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author Geng, Ruishuang
Wang, Qingzhu
Chen, Eileen
Zheng, Qing Yin
author_facet Geng, Ruishuang
Wang, Qingzhu
Chen, Eileen
Zheng, Qing Yin
author_sort Geng, Ruishuang
collection PubMed
description The pathogenesis of otitis media (OM), an inflammatory disease of the middle ear (ME), involves interplay between many different factors, including the pathogenicity of infectious pathogens, host immunological status, environmental factors, and genetic predisposition, which is known to be a key determinant of OM susceptibility. Animal models and human genetics studies have identified many genes and gene variants associated with OM susceptibility: genes that encode components of multiple signaling pathways involved in host immunity and inflammatory responses of the ME mucosa; genes involved in cellular function, such as mucociliary transport, mucin production, and mucous cell metaplasia; and genes that are essential for Eustachian tube (ET) development, ME cavitation, and homeostasis. Since our last review, several new mouse models with mutations in genes such as CCL3, IL-17A, and Nisch have been reported. Moreover, genetic variants and polymorphisms in several genes, including FNDC1, FUT2, A2ML1, TGIF1, CD44, and IL1-RA variable number tandem repeat (VNTR) allele 2, have been identified as being significantly associated with OM. In this review, we focus on the current understanding of the role of host genetics in OM, including recent discoveries and future research prospects. Further studies on the genes identified thus far and the discovery of new genes using advanced technologies such as gene editing, next generation sequencing, and genome-wide association studies, will advance our understanding of the molecular mechanism underlying the pathogenesis of OM and provide new avenues for early screening and developing effective preventative and therapeutic strategies to treat OM.
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spelling pubmed-70254602020-02-28 Current Understanding of Host Genetics of Otitis Media Geng, Ruishuang Wang, Qingzhu Chen, Eileen Zheng, Qing Yin Front Genet Genetics The pathogenesis of otitis media (OM), an inflammatory disease of the middle ear (ME), involves interplay between many different factors, including the pathogenicity of infectious pathogens, host immunological status, environmental factors, and genetic predisposition, which is known to be a key determinant of OM susceptibility. Animal models and human genetics studies have identified many genes and gene variants associated with OM susceptibility: genes that encode components of multiple signaling pathways involved in host immunity and inflammatory responses of the ME mucosa; genes involved in cellular function, such as mucociliary transport, mucin production, and mucous cell metaplasia; and genes that are essential for Eustachian tube (ET) development, ME cavitation, and homeostasis. Since our last review, several new mouse models with mutations in genes such as CCL3, IL-17A, and Nisch have been reported. Moreover, genetic variants and polymorphisms in several genes, including FNDC1, FUT2, A2ML1, TGIF1, CD44, and IL1-RA variable number tandem repeat (VNTR) allele 2, have been identified as being significantly associated with OM. In this review, we focus on the current understanding of the role of host genetics in OM, including recent discoveries and future research prospects. Further studies on the genes identified thus far and the discovery of new genes using advanced technologies such as gene editing, next generation sequencing, and genome-wide association studies, will advance our understanding of the molecular mechanism underlying the pathogenesis of OM and provide new avenues for early screening and developing effective preventative and therapeutic strategies to treat OM. Frontiers Media S.A. 2020-02-07 /pmc/articles/PMC7025460/ /pubmed/32117425 http://dx.doi.org/10.3389/fgene.2019.01395 Text en Copyright © 2020 Geng, Wang, Chen and Zheng http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Geng, Ruishuang
Wang, Qingzhu
Chen, Eileen
Zheng, Qing Yin
Current Understanding of Host Genetics of Otitis Media
title Current Understanding of Host Genetics of Otitis Media
title_full Current Understanding of Host Genetics of Otitis Media
title_fullStr Current Understanding of Host Genetics of Otitis Media
title_full_unstemmed Current Understanding of Host Genetics of Otitis Media
title_short Current Understanding of Host Genetics of Otitis Media
title_sort current understanding of host genetics of otitis media
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7025460/
https://www.ncbi.nlm.nih.gov/pubmed/32117425
http://dx.doi.org/10.3389/fgene.2019.01395
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