Functional annotation of rheumatoid arthritis and osteoarthritis associated genes by integrative genome-wide gene expression profiling analysis

PLoS One. 2014 Feb 14;9(2):e85784. doi: 10.1371/journal.pone.0085784. eCollection 2014.

Abstract

Background: Rheumatoid arthritis (RA) and osteoarthritis (OA) are two major types of joint diseases that share multiple common symptoms. However, their pathological mechanism remains largely unknown. The aim of our study is to identify RA and OA related-genes and gain an insight into the underlying genetic basis of these diseases.

Methods: We collected 11 whole genome-wide expression profiling datasets from RA and OA cohorts and performed a meta-analysis to comprehensively investigate their expression signatures. This method can avoid some pitfalls of single dataset analyses.

Results and conclusion: We found that several biological pathways (i.e., the immunity, inflammation and apoptosis related pathways) are commonly involved in the development of both RA and OA. Whereas several other pathways (i.e., vasopressin-related pathway, regulation of autophagy, endocytosis, calcium transport and endoplasmic reticulum stress related pathways) present significant difference between RA and OA. This study provides novel insights into the molecular mechanisms underlying this disease, thereby aiding the diagnosis and treatment of the disease.

MeSH terms

  • Arthritis, Rheumatoid / genetics*
  • Case-Control Studies
  • Databases, Genetic
  • Gene Expression Profiling*
  • Gene Expression Regulation
  • Gene Ontology
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Humans
  • Molecular Sequence Annotation*
  • Oligonucleotide Array Sequence Analysis
  • Osteoarthritis / genetics*
  • Signal Transduction / genetics

Grants and funding

This study was supported by Shanghai Natural Science Foundation, China (No. 13ZR1424900) and Medical-Engineering Joint Fund of Shanghai Jiao Tong University (No. YG2011MS41). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.