Department of Orthopaedic and Trauma Surgery, Campus Bio-Medico University, Via Alvaro del Portillo, 200, Trigoria, 00128, Rome, Italy.
Carl J. Shapiro Department of Orthopaedic Surgery and Center for Advanced Orthopaedic Studies, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.
BMC Med Genet. 2019 Sep 2;20(1):149. doi: 10.1186/s12881-019-0883-y.
Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disease. Several genes are responsible for rotator cuff disease. The aim of this study was to perform a systematic review on genetic association between rotator cuff disease and genes variations.
A systematic review of the literature was performed, in accordance with the PRISMA guidelines. PubMed, Medline, CINAHL, Cochrane, Embase and Google Scholar databases were searched comprehensively using the keywords: "Rotator cuff", "Gene", "Genetic", "Predisposition", "Single-nucleotide polymorphism" and "Genome-wide association".
8 studies investigating genes variations associated with rotator cuff tears were included in this review. 6 studies were case-control studies on candidate genes and 2 studies were GWASs. A significant association between SNPs and rotator cuff disease was found for DEFB1, FGFR1, FGFR3, ESRRB, FGF10, MMP-1, TNC, FCRL3, SASH1, SAP30BP, rs71404070 located next to cadherin8. Contradictory results were reported for MMP-3.
Further investigations are warranted to identify complete genetic profiles of rotator cuff disease and to clarify the complex interaction between genes, encoded proteins and environment. This may lead to individualized strategies for prevention and treatment of rotator cuff disease.
Level IV, Systematic Review.
肩袖疾病是一种广泛存在的肌肉骨骼病理学，也是肩部疼痛的主要原因。关于家族易感性的研究表明，遗传在肩袖疾病的发病机制中起作用。有几个基因与肩袖疾病有关。本研究旨在对肩袖疾病与基因变异的遗传相关性进行系统评价。
根据 PRISMA 指南进行了系统的文献回顾。使用关键词“Rotator cuff”、“Gene”、“Genetic”、“Predisposition”、“Single-nucleotide polymorphism”和“Genome-wide association”，全面搜索 PubMed、Medline、CINAHL、Cochrane、Embase 和 Google Scholar 数据库。
本综述纳入了 8 项研究基因变异与肩袖撕裂相关的研究。其中 6 项是候选基因的病例对照研究，2 项是 GWAS。发现 SNPs 与肩袖疾病之间存在显著相关性的基因有 DEFB1、FGFR1、FGFR3、ESRRB、FGF10、MMP-1、TNC、FCRL3、SASH1、SAP30BP、rs71404070（位于钙黏蛋白 8 附近）。MMP-3 的结果则存在争议。
需要进一步的研究来确定肩袖疾病的完整遗传图谱，并阐明基因、编码蛋白和环境之间的复杂相互作用。这可能导致针对肩袖疾病的个体化预防和治疗策略。
IV 级，系统评价。
