A six-gene expression signature in peripheral blood mononuclear cells effectively diagnoses osteoarthritis

Dong Yu¹Wei Ding²Xiuru Xue²Zheng Zhang²Jinchang Meng²Bin Yang²Chunlin Liang²Guanghui Zhao²Xiangmao Bu²Wei Chen^2*

• ¹Shandong Second Medical University, Weifang, Shandong Province, China
• ²Peking University People’s Hospital, Qingdao; Women and Children’s Hospital, Qingdao University, Qingdao, China

Osteoarthritis (OA) is a heterogeneous whole-joint disease that inconveniences more than 500 million people worldwide. Early diagnostic methods for OA remain lacking. Peripheral blood mononuclear cells (PBMCs) are ideal sample sources for the early diagnosis of different diseases. However, only a few studies have reported on the role of PBMCs in the early diagnosis of OA. In this study, we integrated the expression signatures of RNA sequencing from our internal cohort (27 patients with OA and 31 controls) and microarray from public external cohort (106 patients with OA and 33 controls) based on PBMC samples. We further screened and constructed a six-gene diagnostic model consisted of the genes THBS1, USP36, GIMAP4, OSM, IL10, and HDC, which could effectively distinguish patients with OA from healthy controls. The receiver operating characteristic curve analysis showed that the area under curve (AUC) of this diagnostic model was 0.928 for our internal cohort and 0.915 for the external cohort, respectively. Interestingly, the gene expression model also had high accuracy (AUC = 0.910) for diagnosing patients with OA based on expression data from synovial tissue. Given that related studies on several signature genes in our diagnostic model for OA are lacking, our study provides novel potential biomarkers for the early diagnosis of OA based on PBMC samples.