Division of Oculofacial Plastic Surgery, Department of Ophthalmology, University of California San Francisco, San Francisco, California, USA.
Francis I. Proctor Foundation, University of California, San Francisco, California, USA.
Ocul Immunol Inflamm. 2024 Jul;32(5):718-721. doi: 10.1080/09273948.2023.2199061. Epub 2023 Apr 17.
Orbital inflammatory disease (OID) is a heterogeneous group of immunologic disorders whose etiology is often non-specific despite routine investigation. In this proof-of-concept study, metagenomic deep sequencing (MDS) is applied to examine host gene expression in two subtypes of OID.
Prospectively collected lacrimal gland tissue from patients with OID was processed for MDS. Differential gene expression analysis was performed to evaluate for host transcriptome signatures. Proof-of-concept comparison was made between histologically confirmed samples of idiopathic dacryoadenitis and IgG4-related disease (IgG4-RD).
Twelve genes were identified to be differentially expressed between idiopathic dacryoadenitis and IgG4-RD. Differences in innate humoral immunity gene expression were observed. Several additional genes of interests were also found to be upregulated in idiopathic dacryoadenitis.
A unique transcriptome signature was found when comparing idiopathic dacryoadenitis to IgG4-RD. This suggests that MDS can identify differentially expressed genes in OID. Such insight could potentially provide a better understanding of host gene expression and the inflammatory pathways involved in OID.
眼眶炎性疾病（OID）是一组异质性免疫紊乱，尽管进行了常规检查，但病因通常不明确。在这项概念验证研究中，应用宏基因组深度测序（MDS）来检测两种 OID 亚型中的宿主基因表达。
前瞻性收集 OID 患者的泪腺组织进行 MDS。进行差异基因表达分析以评估宿主转录组特征。对组织学证实的特发性泪腺炎和 IgG4 相关疾病（IgG4-RD）样本进行概念验证比较。
在特发性泪腺炎和 IgG4-RD 之间鉴定出 12 个差异表达的基因。观察到固有体液免疫基因表达的差异。还发现其他几个感兴趣的基因在特发性泪腺炎中上调。
当比较特发性泪腺炎和 IgG4-RD 时，发现了独特的转录组特征。这表明 MDS 可以识别 OID 中差异表达的基因。这种见解可能有助于更好地了解 OID 中的宿主基因表达和炎症途径。
