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Clinical variables contribute to the severity of Kashin-Beck disease (KBD). However, it is unclear if there is a correlation between gene expression and clinical variables. Peripheral blood samples were collected from 100 patients with KBD and 100 healthy controls from KBD-endemic areas to identify differentially expressed genes in KBD. Correlation analysis and multiple logistic regression analysis were performed using gene expression and clinical parameters. Immunohistochemistry (IHC) was used to detect the expression of related proteins in articular cartilage tissues. Thirty-nine differentially expressed genes were identified in patients with KBD. Nine differentially expressed genes were correlated with the metacarpal length/metacarpal breadth index. FZD1 was identified as having statistical significance in establishing the regression model of clinical parameters and gene expression. FZD1 expression levels were remarkably reduced in patients with KBD. Our results indicate that FZD1 could be involved in the pathological process of phalanges tuberositas and brachydactylia and may provide new insight into the pathogenesis of articular cartilage destruction observed in patients with KBD.

disease markers

Biological Analysis of Gene Expression and Clinical Variables Suggest FZD1 as a Novel Biomarker for Patients with Kashin-Beck Disease, an Endemic Osteoarthritis in China