Identification of ion homeostasis-related genes as diagnostic biomarkers for pulmonary arterial hypertension via WGCNA and machine learning.

S1PR1, CA2, and ABCG2 are identified as key ion homeostasis-related genes with strong diagnostic potential for pulmonary arterial hypertension, with S1PR1 showing protective effects.

• Why it matters: Early diagnosis of PAH remains challenging, and understanding the regulatory network of ion homeostasis genes could improve diagnostic accuracy and reveal therapeutic targets.
• What they did: Using WGCNA and machine learning algorithms on gene expression datasets, researchers identified nine core genes, including three with high diagnostic performance, and validated their roles through bioinformatics and in vitro experiments.
• The result: The findings suggest these genes, especially S1PR1 and CA2, contribute to PAH progression by regulating endothelial function and ion balance, offering promising biomarkers and mechanistic insights for early diagnosis and treatment.