'QuickDASH' to find unique genes and biological processes associated with shoulder osteoarthritis: a prospective case-control study

BMC Res Notes. 2024 Dec 19;17(1):361. doi: 10.1186/s13104-024-07035-9.

Abstract

Objective: Osteoarthritis (OA) is a disease impacting the synovial joint complex, yet transcriptional changes specific to shoulder OA remain underexplored. This study aims to profile transcriptomic changes in periarticular tissues from patients undergoing shoulder replacement for OA. By correlating these profiles with QuickDASH scores-a validated measure of worsening shoulder function-this research seeks to understand the gene expression changes associated with clinical decline. Capsular tissue biopsies from shoulder OA patients were compared with those from a control group undergoing shoulder stabilization for recurrent instability. This investigation forms part of a larger transcriptomic analysis of painful shoulder conditions which will address the current gap in knowledge regarding the molecular and genetic underpinnings of shoulder OA, rotator cuff tears and cuff-tear arthropathy.

Results: The analysis revealed that genes most strongly associated with increasing QuickDASH scores across tissues were linked to inflammation and stress response. Key pathways involved interleukins, chemokines, complement components, nuclear response factors, and immediate early response genes, reflecting a balance between pro- and anti-inflammatory signalling. Additionally, this study identified unique gene expression patterns in shoulder OA not previously observed in hip and knee OA, along with novel genes implicated in shoulder OA, highlighting areas for future targeted investigation. Trial registration This investigation has been registered with the Australian New Zealand Clinical Trials Registry (ANZCTR), registered on the 26th of March 2018, registration number: 12618000431224, accessible from: https://anzctr.org.au/Trial/Registration/TrialReview.aspx?id=374665&isReview=true.

Keywords: Gene expression; Osteoarthritis; Shoulder; Transcriptome; Transcriptomics.

MeSH terms

  • Aged
  • Case-Control Studies
  • Female
  • Gene Expression Profiling / methods
  • Humans
  • Male
  • Middle Aged
  • Osteoarthritis* / genetics
  • Osteoarthritis* / pathology
  • Prospective Studies
  • Shoulder Joint / pathology
  • Transcriptome / genetics