OAGEN Study

This study seeks to elucidate the genetic architecture underlying glenohumeral osteoarthritis (GH OA) through a comprehensive multi-omics approach combining genome-wide association study (GWAS) and transcriptomic analyses. By analyzing the relationships between genetic variants, disease presence, glenoid wear patterns, chondrocyte heterogeneity and differentially expressed genes, the study aims to identify molecular determinants that contribute to susceptibility and progression of GH OA. The findings from this work will lay the foundation for precision medicine approaches, and guide future mechanistic investigations towards the development of targeted rehabilitation and pharmacological interventions.

Inclusion Criteria

• Adults aged 40–85 years experiencing shoulder pain or functional impairment
• Cases: Patients with radiographically confirmed primary atraumatic GH OA. All participants provide a saliva sample; those undergoing shoulder arthroplasty may also choose to provide blood and tissue samples.
• Controls: Patients whose shoulder x-rays show no evidence of GH OA. Those undergoing shoulder arthroplasty for other reasons (such as rotator cuff tears, instability, or fractures) may also opt to provide blood and tissue samples.

Exclusion Criteria

• Traumatic GH OA or inflammatory arthritis
• Current carcinoma patients undergoing immunotherapy or chemotherapy

What Does the Study Entail?

Participation involves providing a saliva sample and completing a baseline questionnaire. For those undergoing shoulder surgery, there is an option to provide blood and surgical tissue samples. Follow-up questionnaires are requested at 3, 6, and 12 months, and then annually for up to 10 years; these cover insurance, demographics, medical and family history, shoulder health, daily activities, pain, function, and overall well-being. Questionnaires may be completed either on paper or electronically from home. Additional optional research participation is available for those who have surgery as recommended by their physician.