Abstract
ObjectiveTo investigate the differences between the gene expression profiles in peripheral blood mononuclear cells (PBMC) from normal controls and patients with Kashin-Beck disease (KBD).MethodsTwenty KBD patients and 12 normal subjects were selected from a KBD-endemic area and divided into four pairs of KBD vs. control (KBD, n = 5 per pair; control, n = 3 per pair). RNAs were respectively isolated from KBD PBMCs and normal PBMCs. Gene expression profiles were analyzed by oligonucleotide microarray. The gene expression profiles in PBMCs from KBD patients and normal controls were compared and the differentially expressed genes were identified. The obtained microarray data was further confirmed by using quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR).ResultsApproximately 501 genes, corresponding to 2.4% of the total probe transcripts, showed a 2-fold change in differential expression. 19.4% (97 out of 501)of the differentially expressed genes were commonly detected in all the four pairs. Among the 97 differentially expressed genes, 83 genes were up-regulated and 14 genes were down-regulated, compared with those in the normal controls. Some differentially expressed genes were found to be related to functions such as immunity, metabolism, apoptosis, cystoskeleton and cell movement, and extracellular matrix. The validity of our microarray data were supported by the results of qRT-PCR assay.ConclusionDifferences in the PBMC gene expression profile between the KBD patients and the normal controls exhibited a similar pattern among all the four pairs of microarrays examined, indicating that the suppressed immunity may play an important role in the pathogenesis of KBD.
Highlights
Kashin-Beck Disease (KBD) is a chronic, endemic osteochondropathy with unknown etiology
Findings of the genome-wide screening The peripheral blood mononuclear cells (PBMC) gene expression profiles of the Kashin-Beck disease (KBD) patients and the normal controls were compared by using the Agilent Human 1A high density oligonucleotide array system, which covers 21073 human genes
Genome-wide expression analysis detected
Summary
Kashin-Beck Disease (KBD) is a chronic, endemic osteochondropathy with unknown etiology. The disease is mainly distributed in a diagonal belt ranging from the northeast to the southwest of China, where the selenium content is low in the soil. Over 2.5 million patients are affected by the disease, and approximately 30 million people are at risk [1]. Recent investigations have shown a high prevalence of the disease in Western China. The KBD prevalence rates in children aged 7 to 13 years old are as high as 50.43%, 27.36%,32.93% and 11.34%,23.08% in the monitoring sites in Tibet, Qinghai and Shaanxi provinces, respectively [2]. The seriously affected children may suffer from shortened stature or dwarfism, and disability in their daily life
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