Mittal Rahul, Robalino Giannina, Gerring Robert, Chan Brandon, Yan Denise, Grati M'hamed, Liu Xue-Zhong
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Biochemistry, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
J Genet Genomics. 2014 Nov 20;41(11):567-81. doi: 10.1016/j.jgg.2014.10.003. Epub 2014 Oct 31.
Otitis media (OM) is a middle ear infection associated with inflammation and pain. This disease frequently afflicts humans and is the major cause of hearing loss worldwide. OM continues to be one of the most challenging diseases in the medical field due to its diverse host targets and wide range of clinical manifestations. Substantial morbidity associated with OM is further exacerbated by high frequency of recurrent infections leading to chronic suppurative otitis media (CSOM). Children have greater susceptibility to, and thus, suffer most frequently from OM, which can cause significant deterioration in quality of life. Genetic factors have been demonstrated, in large part by twin and family studies, to be key determinants of OM susceptibility. In this review, we summarize the current knowledge on immunity genes and selected variants that have been associated with predisposition to OM. In particular, polymorphisms in innate immunity and cytokine genes have been strongly linked with the risk of developing OM. Future studies employing state-of-the-art technologies, including next-generation sequencing (NGS), will aid in the identification of novel genes associated with susceptibility to OM. This, in turn, will open up avenues for identifying high-risk individuals and designing novel therapeutic strategies based on precise targeting of these genes.
中耳炎(OM)是一种与炎症和疼痛相关的中耳感染。这种疾病经常困扰人类,是全球听力损失的主要原因。由于其多样的宿主靶点和广泛的临床表现,OM仍然是医学领域最具挑战性的疾病之一。导致慢性化脓性中耳炎(CSOM)的反复感染的高频率进一步加剧了与OM相关的大量发病率。儿童对OM的易感性更高,因此最常受其影响,这可能导致生活质量显著下降。双胞胎和家族研究在很大程度上证明了遗传因素是OM易感性的关键决定因素。在这篇综述中,我们总结了目前关于免疫基因和与OM易感性相关的特定变体的知识。特别是,先天免疫和细胞因子基因的多态性与患OM的风险密切相关。采用包括下一代测序(NGS)在内的先进技术的未来研究将有助于识别与OM易感性相关的新基因。反过来,这将为识别高危个体和基于这些基因的精确靶向设计新的治疗策略开辟道路。