Lv Zheng-Tao, Gao Shu-Tao, Cheng Peng, Liang Shuang, Yu Si-Yi, Yang Qing, Chen An-Min
Department of Orthopedics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China.
Department of Spine Surgery, The First Affiliate Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China.
Oncotarget. 2017 Dec 27;9(20):15365-15374. doi: 10.18632/oncotarget.23805. eCollection 2018 Mar 16.
The rs12722 polymorphism in COL5A1 gene has been implicated in the etiology of musculoskeletal soft tissue injuries in several association studies with limited sample size and conflicting results. The purpose of the present systematic review and meta-analysis was to evaluate and synthesize the currently available data on the association between rs12722 and musculoskeletal soft tissue injuries. Five electronic databases including Pubmed, EMBASE, ISI Web of Science, CNKI and Wanfang were searched to identify relevant studies published before 15 May, 2017. Summary odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs) were estimated using the RevMan 5.3 software. Nine studies comprising 1140 cases and 1410 healthy controls met the eligibility criteria. Recessive model was confirmed to be the optimum model (TT vs TC + CC). The results indicated that rs12722 SNP was significantly associated with musculoskeletal soft tissue injuries (OR 1.58, 95% CI 1.33, 1.89; < 0.00001). When stratified by injury sites, modest but statistically significant association was found in Achilles tendon pathology (ATP), anterior cruciate ligament injuries (ACLI) and tennis elbow (TE). Subgroup-analysis by ethnicity suggested that TT genotype of rs12722 was associated with tendon and ligament injuries in Caucasians (OR 1.59, 95% CI 1.33, 1.90; < 0.00001) but not in Asians (OR 1.46, 95% CI 0.46, 4.60; = 0.52). Our findings indicated that rs12722 of COL5A1 was positively associated with tendon and ligament injuries, especially in Caucasian subjects. Individuals with TT genotype were predisposed to higher risk of ATP, ACLI and TE.
在一些样本量有限且结果相互矛盾的关联研究中，COL5A1基因中的rs12722多态性与肌肉骨骼软组织损伤的病因有关。本系统评价和荟萃分析的目的是评估和综合目前关于rs12722与肌肉骨骼软组织损伤之间关联的现有数据。检索了包括Pubmed、EMBASE、ISI Web of Science、CNKI和万方在内的五个电子数据库，以识别2017年5月15日前发表的相关研究。使用RevMan 5.3软件估计汇总比值比（OR）和相应的95%置信区间（95%CI）。九项研究（包括1140例病例和1410例健康对照）符合纳入标准。隐性模型被确认为最佳模型（TT与TC+CC）。结果表明，rs12722单核苷酸多态性与肌肉骨骼软组织损伤显著相关（OR 1.58，95%CI 1.33，1.89；P<0.00001）。按损伤部位分层时，在跟腱病变（ATP）、前交叉韧带损伤（ACLI）和网球肘（TE）中发现了适度但具有统计学意义的关联。按种族进行的亚组分析表明，rs12722的TT基因型与白种人的肌腱和韧带损伤相关（OR 1.59，95%CI 1.33，1.90；P<0.00001），而与亚洲人无关（OR 1.46，95%CI 0.46，4.60；P=0.52）。我们的研究结果表明，COL5A1的rs12722与肌腱和韧带损伤呈正相关，尤其是在白种人受试者中。TT基因型个体患ATP、ACLI和TE的风险更高。
