文献类型：期刊文献

英文题名：Identification and Validation of Potential Diagnostic Biomarkers for Pulmonary Arterial Hypertension Based on Gene Expression Profiling

作者：Liu, Huan[1,2,3];Wu, Mengyu[1];Qi, Guanming[4];Ma, Feifei[2];Cao, Yunshan[3]

第一作者：Liu, Huan;刘晖;刘卉;刘宏

通信作者：Ma, FF[1];Cao, YS[2]

机构：[1]Gansu Univ Chinese Med, Gansu Prov Hosp, Clin Med Coll 1, Lanzhou, Gansu, Peoples R China;[2]Capital Med Univ, Capital Inst Pediat, Capital Ctr Childrens Hlth, Dept Biochem & Immunol, Beijing, Peoples R China;[3]Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Heart Lung & Vessels Ctr, Chengdu, Sichuan, Peoples R China;[4]Guthrie Lourdes Hosp, Internal Med, Binghamton, NY USA

第一机构：甘肃中医药大学

通信机构：[1]corresponding author), Capital Med Univ, Capital Inst Pediat, Capital Ctr Childrens Hlth, Dept Biochem & Immunol, Beijing, Peoples R China;[2]corresponding author), Univ Elect Sci & Technol China, Sichuan Prov Peoples Hosp, Heart Lung & Vessels Ctr, Chengdu, Sichuan, Peoples R China.

年份：2025

卷号：15

期号：4

外文期刊名：PULMONARY CIRCULATION

收录：;Scopus(收录号：2-s2.0-105021404948);WOS:【SCI-EXPANDED(收录号:WOS:001610989100001)】；

基金：We sincerely acknowledge the contributors of the publicly available datasets (GSE38267, GSE33463, GSE22356, and GSE117261) from the Gene Expression Omnibus (GEO) database, which were indispensable for this study. We also extend our gratitude to the developers of the bioinformatics tools and platforms, including the STRING database, Cytoscape software, and DAVID, which facilitated our data analysis. Special thanks to Dr. Ma for their guidance in hypoxia-exposure experiments and to the core facility team for providing access to critical instrumentation. This work was supported by the Joint Fund of the Science and Technology Department of Gansu Province (23JRRA1544) and the Capital Institute of Pediatrics Foundation (FX-2019-04), both of which funded the acquisition of experimental materials and reagents. Additional support for publication and further in-depth research was provided by the Chengdu Science and Technology Program (2025-YF09-00049-SN) and the Fundamental Research Funds for the Central Universities (ZYGX2025YGLH002).

语种：英文

外文关键词：GEO; PAH; RNA seq; ROC curves; RT-qPCR

摘要：Pulmonary arterial hypertension (PAH) is a life-threatening condition characterized by elevated pulmonary vascular resistance. Despite recent advances, early diagnosis remains challenging due to nonspecific symptoms. By utilizing RNA sequencing (RNA-seq) data from the GEO database, we conducted bioinformatics analyses to identify potential diagnostic biomarkers. Differentially expressed genes (DEGs) were screened in blood from PAH patients, followed by functional enrichment and protein-protein interaction (PPI) network analyses. Thirteen overlapping DEGs were identified, which were enriched in erythrocyte development, heme biosynthesis, and chloride transport. Five hub genes (SLC4A1, AHSP, ALAS2, FECH, and CA1), exhibited strong diagnostic potential, with an area under the curve (AUC) >= 0.7 in training datasets (GSE38267, GSE22356). External validation using datasets GSE33463 and GSE117261 confirmed their efficacy in blood samples, although AHSP showed reduced performance in lung tissue. Experimental validation in hypoxic human pulmonary artery smooth muscle cells (hPASMCs) supported the bioinformatics findings. These results underscore SLC4A1, AHSP, ALAS2, FECH, and CA1 as promising noninvasive diagnostic biomarkers for PAH, linking transcriptional dysregulation to clinical application.