ABSTRACT

Both bacterial infections and innate oral immunity response participate in development of adeno-tonsillar hypertrophy (ATH). ATH can lead to obstructive sleep apnea. We investigated the beta-defensin 2 (hBD-2) encoding gene, DEFB4, by analyzing the copy number variations (CNVs) of the defensin gene cluster in patients with ATH and by correlating CNV with DEFB4 gene expression. We enrolled 79 patients with ATH, 21 of whom presented with only adenoid hypertrophy, while 58 exhibited hypertrophy of both adenoid and tonsil. CNVs of the defensin gene cluster, DEFB4 mRNA, and hBD-2 protein expression were assessed. Also, beta-defensin 2 was localized histologically using immunohistochemistry. The distribution of defensin gene cluster CNV was similar among the 79 subjects. DEFB4 expression analysis exhibited considerable inter-individual variability, but with neither specific differences among subjects nor correlation with the CNV number. Immunohistochemistry enabled localization of hBD-2 in the tonsil and adenoid epithelium. No differences in localization between the two ATH presentations were found. Inducible antimicrobial defensin peptides exhibited great inter-individual variability in terms of both CNV and gene expression, but no correlation with presentation of ATH was found.

摘要

细菌感染和先天性口服免疫应答均参与腺扁桃体肥大（ATH）的发展。ATH可导致阻塞性睡眠呼吸暂停。我们通过分析ATH患者防御素基因簇的拷贝数变异（CNV）以及将CNV与DEFB4基因表达相关来研究β-防御素2（hBD-2）编码基因DEFB4。我们招募了79例ATH患者，其中21例仅表现为腺样体肥大，而58例同时表现出腺样体和扁桃体肥大。防御素基因簇DEFB4的CNV评估了mRNA和hBD-2蛋白的表达。同样，使用免疫组织化学在组织学上定位β-防御素2。在79名受试者中，防御素基因簇CNV的分布相似。DEFB4表达分析显示出很大的个体间差异，但受试者之间既无特异性差异，也与CNV数无相关性。免疫组织化学能够将hBD-2定位在扁桃体和腺样体上皮中。在两个ATH演示文稿之间未发现本地化差异。诱导型抗菌素防御素肽在CNV和基因表达方面均表现出很大的个体差异，但未发现与ATH呈递相关。