title: Genome-wide gene expression analysis suggests an important role of suppressed immunity in pathogenesis of Kashin-Beck disease.
abstract: OBJECTIVE
  To investigate the differences between the gene expression profiles in peripheral blood mononuclear cells (PBMC) from normal controls and patients with Kashin-Beck disease (KBD).
  
  
  METHODS
  Twenty 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).
  
  
  RESULTS
  Approximately 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.
  
  
  CONCLUSIONS
  Differences 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.
authors.affiliation: Department of Orthodontics, Stomatological Hospital, Key Laboratory of Environment and Genes Related to Diseases, Department of Public Health, College of Medicine, Xi'an Jiaotong University, Ministry of Education, Xi'an, Shaanxi, P.R. China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Wang
authors.forename: Xiong
authors.initials: X
authors.lastname: Guo
authors.forename: Xiao-ming
authors.initials: XM
authors.lastname: Wu
authors.forename: Mikko J
authors.initials: MJ
authors.lastname: Lammi
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D020869:Gene Expression Profiling; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics; D006801:Humans; D007108:Immune Tolerance / Q000235:genetics*; D057767:Kashin-Beck Disease / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D015203:Reproducibility of Results