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.

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肩袖损伤的遗传基础：系统评价

肩袖疾病是一种广泛的肌肉骨骼病理学，是肩部疼痛的主要原因。家族易感性研究表明，遗传在肩袖疾病的发病机理中起着重要作用。几种基因与肩袖疾病有关。这项研究的目的是对肩袖疾病和基因变异之间的遗传关联进行系统的审查。根据PRISMA指南，对文献进行了系统的回顾。使用以下关键词全面搜索了PubMed，Medline，CINAHL，Cochrane，Embase和Google Scholar数据库：“袖套”，“基因”，“遗传”，“易感性”，“单核苷酸多态性”和“全基因组关联” 。这项研究包括8项研究与肩袖撕裂相关的基因变异的研究。6项研究是对候选基因的病例对照研究，而2项研究是GWAS。发现位于cadherin8旁的DEFB1，FGFR1，FGFR3，ESRRB，FGF10，MMP-1，TNC，FCRL3，SASH1，SAP30BP，rs71404070在SNP与肩袖疾病之间存在显着关联。据报道MMP-3的结果矛盾。有必要进行进一步的研究以鉴定肩袖疾病的完整遗传概况，并阐明基因，编码的蛋白质与环境之间的复杂相互作用。这可能导致预防和治疗肩袖疾病的个性化策略。第四级，系统评价。rs71404070位于cadherin8旁边。据报道MMP-3的结果矛盾。有必要进行进一步的研究以鉴定肩袖疾病的完整遗传概况，并阐明基因，编码的蛋白质与环境之间的复杂相互作用。这可能导致预防和治疗肩袖疾病的个性化策略。第四级，系统评价。rs71404070位于cadherin8旁边。据报道MMP-3的结果矛盾。有必要进行进一步的研究以鉴定肩袖疾病的完整遗传概况，并阐明基因，编码的蛋白质与环境之间的复杂相互作用。这可能导致预防和治疗肩袖疾病的个性化策略。第四级，系统评价。