Association between polymorphism rs12722 in COL5A1 and musculoskeletal soft tissue injuries: a systematic review and meta-analysis

Zheng-Tao Lv _, Shu-Tao Gao, Peng Cheng, Shuang Liang, Si-Yi Yu, Qing Yang and An-Min Chen

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Oncotarget. 2018; 9:15365-15374. https://doi.org/10.18632/oncotarget.23805

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Zheng-Tao Lv1,*, Shu-Tao Gao2,*, Peng Cheng1, Shuang Liang1, Si-Yi Yu3, Qing Yang1 and An-Min Chen1

1Department of Orthopedics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China

2Department of Spine Surgery, The First Affiliate Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China

3The 3rd Teaching Hospital, Chengdu University of Traditional Chinese Medicine, Chengdu 610075, China

*These authors contributed equally to this work

Correspondence to:

Qing Yang, email: [email protected]

An-Min Chen, email: [email protected]

Keywords: COL5A1; polymorphism; rs12722; tendon and ligament injury; systematic review

Received: August 05, 2017     Accepted: November 26, 2017     Epub: December 27, 2017     Published: March 16, 2018


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; P < 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; P < 0.00001) but not in Asians (OR 1.46, 95% CI 0.46, 4.60; P = 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.

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