Table 1 Study features
From: Genetic basis of rotator cuff injury: a systematic review
Author | Year | Type of Study | Cases | Controls | Diagnostic Criteria | Exclusion Criteria Case | Exclusion Criteria Control | Candidate Genes | Mean Age Group | Mean Age Control | Associated Genes |
|---|---|---|---|---|---|---|---|---|---|---|---|
Teerlink et al. [19] | 2015 | Case-control on candidate genes | 175 | 2595 | MRI | Partial-thickness rotator cuff tear, tendinopathy only, significant arthritis, prior surgery | – | DEFB1, DENND2C, ESRRB, FGF3, FGF10, FGFR1 | ESRRB (rs7157192) | ||
Motta et al. [20] | 2015 | Case-control on candidate genes | 203 | 207 | Radiography and MRI | Older than 60 years and younger than 45 year, history of trauma, rheumatoid arthritis, autoimmune syndrome, pregnancy, and use of corticosteroids. | History of shoulder pain, impingement syndrome, presence of tendinopathy in other joints | DEFB1, DENND2C, ESRRB, FGF3, FGF10, FGFR1 | 51,8 (+/−5,1) | 53,5 (+/− 5) | DEFB1, ESRRB (rs1676303), FGF3, FGF10, and FGFR1 |
Tashjian et al. [25] | 2016 | GWAS | 311 | 2641 | MRI | Partial-thickness rotator cuff tear, tendinopathy only, significant glenohumeral arthritis, prior surgery | – | GWAS | – | – | SAP30BP on chromosome 17 (P = 3.8E-9), SASH1 on chromosome 6 (P = 1.9E-7) |
Assunção et al. [21] | 2017 | Case-control on candidate genes | 64 | 64 | MRI (case) ultrasound (control) | age > 65 years, traumatic tears | – | MMP-1, MMP-3 | 54 ± 6 | 53 ± 6 | MMP-1, MMP-3 haplotype 2G/5A |
Kluger et al. [22] | 2017 | case-control on candidate genes | 155 (first cohort: 59; second cohort: 96) | 76 (first cohort: 32; second, matched cohort 44) | Ultrasound | History of calcifying tendinitis, trauma or systemic disease/ inflammatory condition. | Prior operations of either shoulder, history of a humeral fracture or an infiltration or conservative shoulder treatment in the last 24 months or a systemic disease/inflammatory condition. | TNC, Col5A1, TIMP-1, MMP-1, MMP-2, MMP-3, MMP-9, and MMP-13 | – | – | TNC |
Roos et al. [26] | 2017 | GWAS | 8357 | 94,622 | – | – | Complete rupture of rotator cuff, Infraspinatus sprain, Rotator cuff sprain, Subscapularis sprain, Supraspinatus sprain, Repair of ruptured rotator cuff (acute), Repair of ruptured rotator cuff (chronic), Reconstruction of complete rotator cuff avulsion, Shoulder arthroscopy with rotator cuff repair | GWAS | – | – | rs71404070 (next to Cadherin8) (P = 2.31 × 10− 8) |
Longo et al. [27] | 2018 | Case-control | 93 | 206 | MRI | Primary osteoarthritis of the operated or contralateral shoulder, inflammatory joint disease. | History of shoulder pain or rotator cuff pathology diagnosed by imaging or clinical examination | col5a1 rs12722 | – | – | – |
Salles et al. [28] | 2018 | Case-control | 146 | 125 | MRI | – | Tendinopathy history in any joint and who present no previous diagnosis of tendinopathy | FCRL3, FOXP3 | 26,93 +/− 6,03 | 21,62+/− 5,39 | FCRL3 |