【摘要】 目的 探讨原发性干燥综合征(primary Sj??gren syndrome,p SS)的新型生物标志物，为p SS的早期预测和诊断提供有效支持。方法 本研究利用多种机器学习算法与加权基因共表达网络分析，联合确定p SS潜在诊断生物标志物。结果 内体/溶酶体相关凋亡与自噬调节因子1(endosome/lysosome-associated apoptosis and autophagy regulator 1,KIAA1324)在p SS组表达显著下调。通路富集分析主要涉及EB病毒感染、乙型肝炎、Janus激酶/信号转导与转录激活蛋白等信号通路。诊断效能评估证实KIAA1324在诊断p SS中具有良好的特异度和灵敏度。此外，KIAA1324表达与免疫细胞浸润水平密切相关，尤其与活化树突状细胞的浸润呈显著关联。结论 KIAA1324是p SS潜在的生物标志物，其与活化树突状细胞浸润的显著关联提示，该基因可能参与p SS免疫微环境调控，为揭示其免疫致病机制提供了新线索。更多还原

【Abstract】 Objective Primary Sj??gren Syndrome(pSS) has complex etiology and pathogenesis,and there is currently a lack of efficient and specific diagnostic biomarkers. Methods This study integrated multiple machine learning algorithms with weighted gene co-expression network analysis to systematically identify potential diagnostic biomarkers for pSS. Results The Endosome/lysosome-associated apoptosis and autophagy regulator 1(KIAA1324) was significantly downregulated in the pSS group. Pathway enrichment analysis indicated its primary involvement in the Epstein-Barr virus infection,Hepatitis B,and Janus Kinase-Signal Transducer and Activator of Transcription signaling pathway. Diagnostic efficacy evaluation confirmed that KIAA1324 exhibits favorable accuracy and sensitivity in the diagnosis of pSS. Furthermore,the expression of KIAA1324 was closely correlated with the level of immune cell infiltration,showing a significant association with the infiltration of activated dendritic cells in particular. Conclusions The KIAA1324 is a potential biomarker for pSS. Its significant association with the infiltration of activated dendritic cells suggests that it may play a role in the regulation of the pSS immune microenvironment,providing new clues for elucidating its immunopathological mechanisms.更多还原