Our purpose is to identify genetic variants associated with rotator cuff tearing and glenohumeral arthritis. Aim1 – Identify patients from the UK Biobank with rotator cuff tears based upon ICD9 and ICD 10 codes. Aim 2- Identify patient from the UK Biobank with primary glenohumeral osteoarthritis based upon ICD9 (715.11) and ICD 10 codes (M19.011- left shoulder, m19.012- right shoulder, and M19.019- unspecified shoulder) Aim 3- Query UK Biobank for xrays minimum 2 views of shoulder (73030) Aim 4- Perform genetic analysis estimating the risk of disease for rare shared haplotypes by comparing all patients with rotator cuff tears and primary glenohumeral osteoarthritis compared to all other patients in the UK Biobank. This method will allow identification of variants associated with rotator cuff tearing and osteoarthritis.
Rotator cuff disease affects over 17 million U.S. people accounting for over 3.8 million physician visits per year. Despite its widespread prevalence, very little is known regarding its genetic basis or heritability. We have also identified various genetic variants associated with the predisposition to rotator cuff tearing including SNPs in ESRRB, SASH1 and SAP30BP genes. (Tashjian JSES 2015, Tashjian JSES 2016) Identification of further variants is limited due to small sample sizes. We have developed a methodology to identify further variants in small sample sets using share genetic segments between individuals to allow identification of familial relationships. There is currently no data on the genetic etiology of glenohumeral osteoarthritis