Prosthetic Surgery Centre, IRCCS Orthopedic Institute Galeazzi, via Riccardo Galeazzi 4, 20161, Milan, Italy.
Department of Orthopaedics and Trauma Surgery, Campus Bio-Medico University of Rome, Rome, Italy.
BMC Med Genet. 2020 Apr 17;21(1):82. doi: 10.1186/s12881-020-01022-0.
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.
遗传学研究为基因变异与腱病之间的相关性提供了有价值的信息。COL5A1 基因的单核苷酸多态性被报道与跟腱病、肘部慢性退行性肌腱改变和其他腱病有关。COL5A1 基因的单核苷酸多态性的影响先前在肩袖疾病的分析中存在混杂结果。此外，COL5A1 基因中的 rs12722 多态性已在几项关联研究中被牵连到肌肉骨骼软组织损伤的发病机制中。本研究旨在分析 COL5A1 中 rs12722 多态性对肩袖修复结果的可能影响。
本研究纳入了 79 名患者。从 1.2ml 静脉血中提取 DNA，对 COL5A1 SNP rs12722 进行基因分型。评估肩袖肌肉力量和前抬高、外展和内旋时的肩部活动度（ROM）。
携带 COL5A1 SNP rs12722 CC 的患者的被动外旋 ROM 明显高于 CT 基因型和 TT 基因型的患者。
尽管需要进一步的研究来证实这些初步结果，但 COL5A1 SNP rs12722 可能会影响 RCR 的功能结果。
