Zhong Binlong, Huang Donghua, Ma Kaige, Deng Xiangyu, Shi Deyao, Wu Fashuai, Shao Zengwu
Department of Orthopaedic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, People's Republic of China.
Oncotarget. 2017 Sep 8;8(43):75488-75499. doi: 10.18632/oncotarget.20797. eCollection 2017 Sep 26.
It has been reported that the single nucleotide polymorphism (SNP) rs1800012 in COL1A1 gene might be linked to the susceptibility of musculoskeletal degenerative diseases, such as osteoarthritis (OA) and intervertebral disc degeneration (IVDD). However, the data from different studies is contradictory. Here we aimed to comprehensively summarize and clarify the relationship between the SNP and musculoskeletal degenerative diseases. Seven eligible studies including 1339 cases and 5406 controls were screened out from PubMed, Web Of Science and Cochrane library databases. Significant association was identified in sub group analysis of IVDD in homozygote model (GG versus TT: OR = 0.33, 95% CI 0.14-0.78, = 0.012), heterozygote model (GT versus TT: OR = 0.29, 95% CI 0.11-0.72, = 0.008) and dominant model (GG/GT versus TT: OR = 0.31, 95% CI 0.13-0.74, = 0.008). Additionally, significant relationship was also found in sub group analysis of severe degree of IVDD in homozygote model (GG versus TT: OR = 0.37, 95% CI 0.15-0.91, = 0.031), heterozygote model (GT versus TT: OR = 0.33, 95% CI 0.13-0.87, = 0.024) and dominant model (GG/GT versus TT: OR = 0.36, 95% CI 0.14-0.88, = 0.025). Although no significance was observed, there is a trend that the more G allele at COL1A1 rs1800012 site, the less possibility of IVDD and severe IVDD would happen. Our results indicate that COL1A1 rs1800012 polymorphism associates with the susceptibility of IVDD. However, this polymorphism may not be associated with OA risk.
据报道，COL1A1基因中的单核苷酸多态性（SNP）rs1800012可能与肌肉骨骼退行性疾病的易感性有关，如骨关节炎（OA）和椎间盘退变（IVDD）。然而，不同研究的数据相互矛盾。在此，我们旨在全面总结并阐明该SNP与肌肉骨骼退行性疾病之间的关系。从PubMed、Web Of Science和Cochrane图书馆数据库中筛选出7项符合条件的研究，共1339例病例和5406例对照。在IVDD的纯合子模型（GG与TT：OR = 0.33，95% CI 0.14 - 0.78，P = 0.012）、杂合子模型（GT与TT：OR = 0.29，95% CI 0.11 - 0.72，P = 0.008）和显性模型（GG/GT与TT：OR = 0.31，95% CI 0.13 - 0.74，P = 0.008）的亚组分析中发现了显著关联。此外，在IVDD严重程度的亚组分析中，纯合子模型（GG与TT：OR = 0.37，95% CI 0.15 - 0.91，P = 0.031）、杂合子模型（GT与TT：OR = 0.33，95% CI 0.13 - 0.87，P = 0.024）和显性模型（GG/GT与TT：OR = 0.36，95% CI 0.14 - 0.88，P = 0.025）也发现了显著关系。尽管未观察到显著性，但存在一种趋势，即COL1A1 rs1800012位点的G等位基因越多，发生IVDD和严重IVDD的可能性越小。我们的结果表明，COL1A1 rs1800012多态性与IVDD的易感性相关。然而，这种多态性可能与OA风险无关。
