Dataset Information

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.

SUBMITTER: Petrillo S

PROVIDER: S-EPMC7165385 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Petrillo Stefano S Longo Umile Giuseppe UG Margiotti Katia K Candela Vincenzo V Fusilli Caterina C Rizzello Giacomo G De Luca Alessandro A Denaro Vincenzo V

BMC medical genetics 20200417 1

<h4>Background</h4>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 ge ...[more]

PMID: 32303186

Similar Datasets

Project description:PurposeTo determine whether patients who require margin convergence would have equivalent postsurgical patient-determined scores compared with patients with standard rotator cuff repair. The secondary purpose of this study was to determine whether the short-term results found for patients with margin convergence repairs would be durable through medium-term follow-up.MethodsA retrospective analysis of patients undergoing arthroscopic rotator cuff repair was performed to examine the effects of marginal convergence on patient-determined outcomes (Western Ontario Rotator Cuff Index, American Shoulder and Elbow Surgeons score, Simple Shoulder Test, Single Assessment Numeric Evaluation, and Shoulder Activity Level). Patient-determined outcomes in patients who had margin convergence repairs were compared with patients who had standard rotator cuff repair. Prospective follow-up of patients that had margin convergence repairs was performed to determine whether patient-determined outcomes deteriorated over time.ResultsTwo-hundred-seventy-two patients had standard rotator cuff repairs and 9 patients had margin convergence rotator cuff repair (3.2%). All patients had significant improvements in their Western Ontario Rotator Cuff Index, American Shoulder and Elbow Surgeons score, Simple Shoulder Test, and Single Assessment Numeric Evaluation. Patients requiring margin convergence rotator cuff repair had similar preoperative and postoperative scores compared with patients with a standard rotator cuff repair. At a mean follow-up of 7.5 years, there was no change in outcome scores compared with the early follow-up time point (mean 3.3 years) for patients undergoing margin convergence.ConclusionsArthroscopic margin convergence repair techniques along with the treatment of concomitant pathologies result in similar patient-determined outcomes compared with standard rotator cuff repair techniques. These results appear to be durable and do not deteriorate from short-term to medium-term follow-up.Level of evidenceIII: Retrospective comparative study.

Dataset Information

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

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure