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Integration of Immune Cell Signatures and Diagnostic Gene Markers in Pancreatitis: A Comprehensive Study on Therapeutic Targets and Predictive Diagnosis

Xie Q, Liu B, Yu X, Wei X, Xiao Q

Human mutation, 2025

2 citations

Abstract

Pancreatitis is a severe and increasingly prevalent disease that affects the digestive system. Early detection and accurate diagnosis of this condition are crucial for reducing mortality rates and improving patient outcomes. Therefore, the development of novel diagnostic markers is essential for enhancing clinical management and advancing the understanding of pancreatitis. The initial phase involved applying the ssGSEA method to extract hypoxia scores from these samples. Subsequently, a thorough differential expression analysis was performed, complemented by functional assessments and various machine learning techniques designed to pinpoint critical diagnostic genes relevant to pancreatitis. From this, a robust diagnostic model was constructed and validated using a series of machine learning strategies. To further validate our results, molecular docking studies were conducted to determine the binding affinities between the identified markers and standard medications such as omeprazole and lansoprazole. Additionally, the ssGSEA methodology was leveraged to compute immune cell scores within the pancreatitis samples, thus enriching the analysis of the relationships between significant diagnostic genes and various immune cell types. Finally, the experiments of ELISA and qRT-PCR were used to verify the expression of key target genes. Through WGCNA, we identified a total of 50 genes associated with hypoxic conditions within the pancreatitis samples. Further investigations,…

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