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中耳炎的遗传学

Genetics of otitis media.

作者信息

Post Christopher

机构信息

Pediatric Otolaryngology, and Center for Genomic Sciences, Allegheny General Hospital, Pittsburgh, Pa., USA.

出版信息

Adv Otorhinolaryngol. 2011;70:135-140. doi: 10.1159/000322489. Epub 2011 Feb 24.

DOI:10.1159/000322489
PMID:21358196
Abstract

There is a growing body of evidence, both from animal and human studies, that host genetic factors can influence the risk of developing otitis media (OM). The role of genetics in OM has been elucidated through studies with monozygotic and dizygotic twins, analyses linking genetic polymorphisms to OM susceptibility, and genome scans. Several twin studies have shown a strong genetic component to middle ear effusion risk, with the estimate of the role of heredity for the proportion of time with middle ear effusions being around 0.7. Genetic polymorphisms in plasminogen activator inhibitor-1, interleukin-6, tumor necrosis factor-α, human leukocyte antigen, and mannose-binding lectin have been variously linked with OM and upper respiratory infection susceptibility. Several genome linkage studies have identified chromosomal regions associated with chronic OM, including 3p, 10q, 10q22.3, 17q12 and 19q. A number of candidate genes are associated with these sites. Given the current state of understanding of the role of genetics in OM, a family history of OM should be ascertained for all patients. Children with a strong family history of OM should be considered as candidates for a more aggressive early treatment of OM, particularly if other risk factors are present. These children may be earlier candidates for the placement of tympanostomy tubes and/or adenoidectomy. Existing data do not support routine genetic testing to determine a child's susceptibility to OM; however, given the advances in whole genome sequencing, such testing may someday play a role in the management of the OM patient.

摘要

来自动物和人体研究的证据越来越多,表明宿主遗传因素会影响患中耳炎(OM)的风险。通过对同卵双胞胎和异卵双胞胎的研究、将基因多态性与OM易感性相关联的分析以及基因组扫描,遗传学在OM中的作用已得到阐明。多项双胞胎研究表明,中耳积液风险有很强的遗传成分,遗传因素对中耳积液时间比例的作用估计约为0.7。纤溶酶原激活物抑制剂-1、白细胞介素-6、肿瘤坏死因子-α、人类白细胞抗原和甘露糖结合凝集素中的基因多态性与OM和上呼吸道感染易感性存在不同程度的关联。多项基因组连锁研究已确定与慢性OM相关的染色体区域,包括3p、10q、10q22.3、17q12和19q。许多候选基因与这些位点相关。鉴于目前对遗传学在OM中作用的理解状况,应为所有患者确定中耳炎家族史。有强烈中耳炎家族史的儿童应被视为更积极早期治疗OM的候选对象,尤其是存在其他风险因素时。这些儿童可能是更早进行鼓膜置管和/或腺样体切除术的候选对象。现有数据不支持进行常规基因检测以确定儿童对OM的易感性;然而,鉴于全基因组测序的进展,这种检测可能有一天会在OM患者的管理中发挥作用。

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