Table I.

Studies on familial predisposition to rotator cuff disease

Study	Methods	Participants	Group Definitions	Results	Source of Funding	Notes
Harvie et al.6 (2004)	Case-control	Cases: n = 129; mean age 63.1 (41 to 85) Controls: n = 150; mean age 62.4 (43 to 85)	Case: Included siblings of individuals diagnosed with a rotator cuff tear by ultrasound. Excluded those who were not available for review, were not full first-degree relatives of individuals with rotator cuff tears, or had concomitant systemic disease affecting the function of the shoulder. Control: Included spouses of individuals diagnosed with a rotator cuff tear by ultrasound.	Relative to Controls, Cases participants had more than twice the risk of developing full-thickness tears (p < 0.0001), and nearly five times the risk of suffering symptoms (p < 0.0001). No significant differences were found in other measures between Cases and Controls.	Girdlestone Memorial Scholarship in Orthopaedic Surgery from The Lord Nuffield Orthopaedic Centre Trust
Gwilym et al.5 (2009)	Case-control	Cases: n = 62; mean age 66.6 (46 to 88) Controls: n = 68; mean age 66.1 (52 to 82)	Case: Included siblings of individuals diagnosed with a rotator cuff tear by ultrasound. Excluded individuals who had shoulder surgery or had a systemic disease affecting shoulder function. Control: Included spouses of individuals diagnosed with a rotator cuff tear by ultrasound. Excluded individuals who had shoulder surgery or had a systemic disease affecting shoulder function.	69.2% of Cases had full-thickness tears compared to 22.1% of Controls (p = 0.0001). The relative risk estimate for Cases to have a full-thickness tear was 2.85 (95% CI 1.75–4.64, p = 0.0001). The relative risk progression in Cases compared to Controls was 2.08 (95% CI 1.58–2.7) (p = 0.007). The relative risk of pain associated with a full-thickness tear in Cases compared to Controls was 1.44 (95% CI 2.04–8.28)	None stated.	5-year follow-up to Harvie et al.6 (2004) with a loss of follow up of about half the original cohort
Tashjian et al.24 (2009)	Population-based case-control	Cases: n = 3,091 Case Subgroup: n = 652 Controls: n = 15,455	Case: Included individuals who went to the University of Utah Hospital and Clinics, had an ICD-9 diagnosis code or CPT-4 procedure code, and had at least three generations of genealogical data. Case Subgroup: Included individuals in Case group who were diagnosed before age 40. Control: Included individuals who were in the Utah Population Database and had genealogical data.	The overall Genealogical Index of Familiality shows a significant excess relatedness for Cases (p < 0.001), but the distance tests shows that excess relatedness observed is not significant when close relationships are ignored (p = 0.848). First degree relatives of Cases had p < 0.0001, relative risk of 2.44, and 95% CI 2.06–2.89. Second degree relatives had p = 0.0177, relative risk of 1.24, and 95% CI 1.04–1.48. Third degree relatives had p = 0.2866, relative risk of 1.08, and 95% CI 0.94–1.24. For Case Subgroup participants, both the overall (p = 0.001) and distance Genealogical Index of Familiality (p = 0.004) tests show significant excess relatedness. First degree relatives of Case Subgroup participants had p = 0.2614, relative risk of 1.73, and 95% CI 0.69–4.37. Second degree relatives had p = 0.0076, relative risk of 3.66, and 95% CI 1.47–9.11. Third degree relatives had p = 0.0479, relative risk of 1.81, and 95% CI 1.05–3.11.	National Institutes of Health-National Library of Medicine University of Utah Huntsman Cancer Institute
Tashjian et al.26 (2014)	Case-control	Cases: n = 92; mean age 58.24 +/− 7.4 Controls: n = 92; mean age 58.42 +/− 8.5	Case: Included individuals who had magnetic resonance imaging (MRI)-confirmed, symptomatic, full-thickness rotator cuff tears. Control: Included individuals who were over age 18 and had no shoulder pain or prior shoulder injury or surgery.	32.3% of Cases reported having family members with a history of rotator cuff tears or surgery, compared with 18.3% of Controls (p = 0.035). 22.8% of Cases reported having family members with tendon problems or surgery, compared with 17.5% of Controls (p = 0.407). 38.7% of Cases reported having a history of other tendon problems, compared with 19.3% of Controls (p = 0.005). 18.3% of Cases reported having other prior tendon surgeries, compared with 13.6% of Controls (p = 0.605).	None stated.	Control matching between group participants was based on age to within five years