Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair

Abstract

Background: Investigations in genetics have provided valuable information about the correlation between gene variants and tendinopathy. Single Nucleotide Polymorphisms of COL5A1 gene are reported to be involved in Achilles tendinopathy, chronic degenerative tendon changes at the elbow, and other tendinopathies. The influence of Single Nucleotide Polymorphisms of COL5A1 was previously analyzed in rotator cuff disease with confounding results. Moreover, the rs12722 polymorphism in COL5A1 gene has been implicated in the aetiology of musculoskeletal soft tissue injuries in several association studies. This study aims to analyse the possible influence of rs12722 polymorphism in COL5A1 in the outcomes of rotator cuff repair. Methods: Seventy-nine patients were included in the study. DNA was extracted from 1.2 ml of venous blood and genotyped for COL5A1 SNPs rs12722. Rotator cuff muscle strength and range of motion (ROM) in anterior elevation, external and internal rotation of the shoulder were evaluated. Results: Patients presenting COL5A1 SNP rs12722 CC showed a ROM of passive external rotation statistically significantly higher compared to patients with CT genotype and TT genotype. Conclusions: COL5A1 SNP rs12722 may influence the functional outcomes of RCRs, even though further studies are required to confirm these preliminary results.

Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study

“…These genes are involved in apoptosis and cell adhesion. Contradictory results have been reported for MMP-3 [ 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 ]. GWAS have pointed to common variants more frequently detected in sporadic patients but, hitherto, no WES analysis has been conducted to identify rare gene variants with major pathogenetic role in familial cases.…”

“…An aberrant expression of histone deacetylases (HDACs) is associated with carcinogenesis [ 33 ]. SNPs in MMPs have also been closely associated with RC tears [ 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 34 ]. In addition, HDAC10 is important in chronic inflammation, and inflammatory responses affect synovium-derived mesenchymal stem cell (SMSC) function in temporomandibular joint repair [ 35 ].…”

Why Use Adipose-Derived Mesenchymal Stem Cells in Tendinopathic Patients: A Systematic Review

“…(5) the ASCs treatment for tendinopathy; (6) the final follow-up; (7) the primary (scores evaluating tendinopathy) and secondary outcomes (adverse reactions reported) for ASCs treatment; (8) the number of treated and control patients at baseline and at final followup; (9) the characteristic of the patients (at least age and sex; body mass index-BMI-if reported); (10) the inclusion and the exclusion criteria; (11) the significant changes in scores at final and intermediate follow-up, confirmed by MRI or US.…”

“…The pathogenesis of tendinopathies is clearly multifactorial [6]. A genetic component was reported in Achilles, elbow and rotator cuff tendinopathies [8,9], although genetic modifications alone are not able to justify the insurgence of the disease [8]. Indeed, the possibility of developing a tendinopathy seems to be increased by the interaction between intrinsic (age, body structure, nutrition, metabolic, genetic) and extrinsic factors (fatigue, improper loading, disuse, exogenous damage) [9,10].…”

Regulatory VCAN Polymorphism is Associated with Shoulder Pain and Disability in Breast Cancer Survivors

“…A growing body of evidence, from non-cancer-related conditions, supports the role of polymorphisms within genes encoding structural and regulatory extracellular matrix (ECM) proteins in modulating susceptibility to shoulder pathology [8][9][10][11]. Although no associations between polymorphisms in proteoglycan encoding genes and non-cancer-related shoulder conditions have been reported to date, proteoglycans are important ECM components whose expression levels are altered in such conditions [12,13].…”