Abstract
To explore the pathologies of Kashin-Beck disease (KBD) and KBD accompanied with dental fluorosis (DF), we conducted a comparative analysis of gene expression profiles. 12 subjects were recruited, including 4 KBD patients, 4 patients with KBD and DF and 4 healthy subjects. Genome-wide expression profiles from their peripheral blood mononuclear cells were evaluated by customized oligonucleotide microarray. R programming software was used for the microarray data analysis followed by functional enrichment analysis through KOBAS. Several potential biomarkers were identified, and quantitative real-time reverse transcription–polymerase chain reaction (qRT-PCR) was used for their validation. In this study, 28 genes and 8 genes were found to be up- and down-regulated respectively in KBD patients compared with health subjects. In patients with KBD and DF, we obtained 10 up-regulated and 3 down-regulated genes compared with health controls. Strikingly, no differential expression gene (DEG) was identified between the two groups of patients. A total of 10 overlaps (DUSP2, KLRF1, SRP19, KLRC3, CD69, SIK1, ITGA4, ID3, HSPA1A, GPR18) were obtained between DEGs of patients with KBD and patients with KBD and DF. They play important roles in metabolism, differentiation, apoptosis and bone-development. The relative abundance of 8 DEGs, i.e. FCRL6, KLRC3, CXCR4, CD93, CLK1, GPR18, SRP19 and KLRF1, were further confirmed by qRT-PCR analysis.
Highlights
It has been reported that genetic factors play important roles in the pathogenesis of Kashin-Beck disease (KBD) and dental fluorosis (DF)
Affymetrix PrimeView Human Gene Expression Array was used for the quantification of genome-wide expression profiles from peripheral blood mononuclear cells of patients with KBD, KBD and DF, as well as healthy controls, for the comparative analysis
We conducted a comparative analysis of gene expression profiles for patients with KBD, KBD and DF, and healthy controls using
Summary
It has been reported that genetic factors play important roles in the pathogenesis of KBD and DF. Extensive genetic studies have been conducted to identify susceptibility genes for KBD and DF, and several valuable biomarkers have been obtained, such as HLA-DRB1, ITPR2, ADAM12, ameloblastin gene, and ER Rsa I. The mechanism of KBD and DF remains unclear. The purpose of this study is to explore the common pathogenesis and the underlying molecular functions of TM KBD and DF. Several biomarkers were further confirmed by qRT-PCR. This should be helpful for the understanding of mechanisms of KBD and DF and the development of novel drugs and therapeutic methods
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