Casselbrant Margaretha L, Mandel Ellen M
ENT Research Center, Children's Hospital of Pittsburgh, Pennsylvania, USA.
Curr Opin Allergy Clin Immunol. 2005 Feb;5(1):1-4. doi: 10.1097/00130832-200502000-00002.
Otitis media is a disease that is prevalent in the pediatric population, and recent twin and triplet studies have confirmed that there is a strong genetic component to susceptibility. Here, we summarize the status of current efforts to identify the specific genes underlying otitis media susceptibility and presentation.
Recent studies have focused on identifying candidate genes. For example, IFN-gamma polymorphisms, allotypes of the leukocyte IgG (FcgammaR) receptors and certain haplotypes of surfactant genes were linked in pilot studies to otitis media susceptibility. The pattern of gene expression during an episode of otitis media is also being elucidated with the overall goal of providing clues as to which of these modulated genes are polymorphic and thus potentially capable of affecting otitis media susceptibility. Mucin and cathepsin protease genes were shown to exhibit these characteristics.
In addition to the simple searches for linkages between known genes and otitis media, work is progressing within the context of genome-wide linkage studies. These efforts promise to answer some of the many questions remaining in otitis media susceptibility and pathogenesis.
中耳炎是一种在儿童群体中普遍存在的疾病,近期的双胞胎和三胞胎研究证实,易感性存在很强的遗传因素。在此,我们总结当前在确定中耳炎易感性和临床表现背后的特定基因方面所做努力的现状。
近期研究聚焦于识别候选基因。例如,在初步研究中,γ干扰素多态性、白细胞IgG(FcγR)受体的同种异型以及表面活性剂基因的某些单倍型与中耳炎易感性相关。中耳炎发作期间的基因表达模式也正在被阐明,总体目标是提供线索,以确定这些被调节的基因中哪些是多态性的,从而有可能影响中耳炎易感性。粘蛋白和组织蛋白酶基因显示出这些特征。
除了简单地寻找已知基因与中耳炎之间的联系外,全基因组连锁研究也在推进。这些努力有望回答中耳炎易感性和发病机制中仍存在的许多问题。