Table II.

Studies on genetic predisposition to rotator cuff disease

Study	Methods	Participants	Group Definitions	Results	Source of Funding	Notes
Motta et al.13 (2014)	Case-control	Cases: n = 203; mean age 51.8 +/− 5.1 Controls: n = 207; mean age 53.5 +/− 5	Case: Included individuals diagnosed with rotator cuff disease by clinical examination, radiography, and MRI. Excluded individuals who were older than 60 or younger than 45; or had a history of trauma, bursitis, rheumatoid arthritis, autoimmune diseases, pregnancy, chronic systemic corticoid use, or hyperlaxity. Control: Included individuals who had no history of shoulder pain, a negative specific test result for impingement syndrome, and absence of tendinopathy in other joints.	Whites (p = 0.002) and women (p = 0.001) had a higher prevalence of rotator cuff disease. Based on odds ratio calculation, the risk in women (OR 2.07, 95% CI 1.30–3.30) and whites (OR 1.88, 95% CI 1.21–2.90) was two times higher than in group 2. Cases had a higher incidence of high blood pressure (p < 0.001). Controls had a higher prevalence of systemic diseases (p < 0.0001), medication use (p = 0.01), and calcium supplementation (p = 0.01). A significant association of certain haplotypes in DEFB1, FGFR1, FGFR3, and ESRRB was observed with RCD. Adjusted by ethnic group and sex revealed another association in FGF10	None stated.
Teerlink et al.27 (2015)	Case-control	Cases: n = 175 Controls: n = 2,595	Case: Included individuals who had a full-thickness supraspinatus or infraspinatus rotator cuff tear documented on MRI after age 30 and before age 80. Excluded individuals who had a partial-thickness rotator cuff tear, tendinopathy only, or significant glenohumeral arthritis; or had prior surgery on the involved shoulder.	There was a significant association between ESRRB genetic variants and rotator cuff disease. Two haplotypes constructed from 22 SNPs spanning ESRRB both significantly increased the risk of rotator cuff tearing	Veterans Administration Merit Review Grant (Number 1157449) U.S. Department of Veterans Affairs
Tashjian et al.25 (2016)	GWAS	Cases: n = 311 Controls: n = 2,641	Case: Included individuals who had a full-thickness supraspinatus or infraspinatus rotator cuff tear documented on MRI, and who were older than 30 and younger than 80. Excluded individuals who had a partial-thickness rotator cuff tear, tendinopathy only, or significant glenohumeral arthritis; or had prior surgery on the involved shoulder.	Two SNPs within genes SAP30BP (rs820218) and SASH1 (rs12527089) were significantly associated with rotator cuff tears	Veterans Administration Merit Review Grant (No. 1157449), U.S. Department of Veterans Affairs	Teerlink et al.27 (2015) found an associated SNP in ESRRB, which was further confirmed in this study