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Updated: Jul 30, 2026
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Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
Published on: June 26, 2018
Peripheral blood gene expression profiling in rheumatoid arthritis
F M Batliwalla1, E C Baechler, X Xiao
1Robert S Boas Center for Genomics and Human Genetics, North Shore-Long Island Jewish Research Institute, Manhasset, NY 11030, USA.
Genes and Immunity
|June 24, 2005
Summary
Gene expression profiling in rheumatoid arthritis (RA) patients revealed significant differences in peripheral blood mononuclear cells (PBMCs). Key genes like S100A12 and GAB2 may play roles in RA pathogenesis, warranting further study with larger sample sizes.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by joint inflammation.
- Understanding the molecular mechanisms underlying RA pathogenesis is crucial for developing effective treatments.
Purpose of the Study:
- To investigate gene expression patterns in peripheral blood mononuclear cells (PBMCs) of active rheumatoid arthritis (RA) patients compared to healthy controls.
- To identify specific genes and pathways involved in RA pathogenesis.
Main Methods:
- Gene expression profiling using Affymetrix U95Av2 arrays on PBMCs from 29 RA patients and 21 controls.
- Cluster analysis and logistic regression were employed to identify differentially expressed genes.
- Correlation analysis with monocyte counts was performed.
Main Results:
- Significant alterations in the expression of 81 genes were observed in RA patients (P<0.001).
- Many altered genes were highly expressed in monocytes, correlating with monocyte count differences.
- Top discriminating genes for RA classification included Glutaminyl cyclase, IL1RA, S100A12, and GAB2.
Conclusions:
- Overexpression of S100A12 suggests the involvement of RAGE pathways in RA.
- Altered GAB2 expression is significant given the association of PTPN22 with RA risk.
- Gene expression profiling of PBMCs offers insights into RA pathogenesis, but larger studies are needed for biomarker discovery and therapeutic response prediction.
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