Gene expression profiling reveals a down-regulation in immune-associated genes in AS patients

Duan, Ran, Leo, Paul, Bradbury, Linda, Brown, Matthew and Thomas, Gethin (2010) Gene expression profiling reveals a down-regulation in immune-associated genes in AS patients. Annals of the Rheumatic Diseases, 69 9: 1724-1729. doi:10.1136/ard.2009.111690

Author Duan, Ran
Leo, Paul
Bradbury, Linda
Brown, Matthew
Thomas, Gethin
Title Gene expression profiling reveals a down-regulation in immune-associated genes in AS patients
Journal name Annals of the Rheumatic Diseases   Check publisher's open access policy
ISSN 0003-4967
Publication date 2010-09
Year available 2009
Sub-type Article (original research)
DOI 10.1136/ard.2009.111690
Volume 69
Issue 9
Start page 1724
End page 1729
Total pages 6
Place of publication London, United Kingdom
Publisher B M J Group
Collection year 2010
Language eng
Subject C1
970106 Expanding Knowledge in the Biological Sciences
970111 Expanding Knowledge in the Medical and Health Sciences
920116 Skeletal System and Disorders (incl. Arthritis)
060405 Gene Expression (incl. Microarray and other genome-wide approaches)
1107 Immunology
Formatted abstract
Objective: To identify differentially expressed genes in peripheral blood mononuclear cells (PBMCs) from patients with ankylosing spondylitis (AS) compared with healthy individuals.

Methods: RNA was extracted from PBMCs collected from 18 patients with active disease and 18 gender-matched and age-matched controls. Expression profiles of these cells were determined using microarray. Candidate genes with differential expressions were confirmed in the same samples using quantitative reverse transcription-PCR (qRT-PCR). These genes were then validated in a different sample cohort of 35 patients with AS and 18 controls by qRT-PCR.

Results: Microarray analysis identified 452 genes detected with 485 probes which were differentially expressed between patients with AS and controls. Underexpression of NR4A2, tumour necrosis factor AIP3 (TNFAIP3) and CD69 was confirmed. These genes were further validated in a different sample group in which the patients with AS had a wider range of disease activity. Predictive algorithms were also developed from the expression data using receiver-operating characteristic curves, which demonstrated that the three candidate genes have ~80% power to predict AS according to their expression levels.

Conclusions: The findings show differences in global gene expression patterns between patients with AS and controls, suggesting an immunosuppressive phenotype in the patients. Furthermore, downregulated expression of three immune-related genes was confirmed. These candidate genes were also shown to be strong predictive markers for AS.
Keyword Ankylosing spondylitis
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 19 times in Thomson Reuters Web of Science Article | Citations
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Created: Mon, 12 Apr 2010, 09:16:07 EST by Sarah Macaione on behalf of UQ Diamantina Institute