Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair.
Achilles Tendon
/ diagnostic imaging
Adult
Aged
Arthroscopy
/ methods
Collagen Type V
/ genetics
Female
Genotype
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
/ genetics
Rotator Cuff
/ diagnostic imaging
Rotator Cuff Injuries
/ diagnostic imaging
Shoulder
/ diagnostic imaging
Tendinopathy
/ diagnostic imaging
Arthroscopy
COL5A1 polymorphism
Outcomes
Rotator cuff, genetic
Shoulder
Journal
BMC medical genetics
ISSN: 1471-2350
Titre abrégé: BMC Med Genet
Pays: England
ID NLM: 100968552
Informations de publication
Date de publication:
17 04 2020
17 04 2020
Historique:
received:
05
11
2019
accepted:
05
04
2020
entrez:
19
4
2020
pubmed:
19
4
2020
medline:
17
7
2020
Statut:
epublish
Résumé
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. 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. 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. COL5A1 SNP rs12722 may influence the functional outcomes of RCRs, even though further studies are required to confirm these preliminary results.
Sections du résumé
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.
Identifiants
pubmed: 32303186
doi: 10.1186/s12881-020-01022-0
pii: 10.1186/s12881-020-01022-0
pmc: PMC7165385
doi:
Substances chimiques
COL5A1 protein, human
0
Collagen Type V
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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