Abstract
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, P = 0.012), heterozygote model (GT versus TT: OR = 0.29, 95% CI 0.11–0.72, P = 0.008) and dominant model (GG/GT versus TT: OR = 0.31, 95% CI 0.13–0.74, P = 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, P = 0.031), heterozygote model (GT versus TT: OR = 0.33, 95% CI 0.13–0.87,P = 0.024) and dominant model (GG/GT versus TT: OR = 0.36, 95% CI 0.14–0.88, P = 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.
Highlights
Type I collagen, which is a heterotrimer constituted by 2α1 chains and 1α2 chain, is the major protein in skin, ligaments, and bone [1]
It has been reported that the single nucleotide polymorphism (SNP) rs1800012 in type I collagen alpha 1 (COL1A1) gene might be linked to the susceptibility of musculoskeletal degenerative diseases, such as osteoarthritis (OA) and intervertebral disc degeneration (IVDD)
The percentage of COL1A1 in TMJ cartilage is markedly higher than hip or knee joint in anatomy and histology, we take them together when analyzing the relationship between COL1A1 rs1800012 polymorphism and OA since these three OA have similar pathogenesis in subchondral bone [12, 29,30,31]
Summary
Type I collagen, which is a heterotrimer constituted by 2α1 chains and 1α2 chain, is the major protein in skin, ligaments, and bone [1]. It can be roughly classified into type I collagen 1 (COL1A1) and type I collagen 2 (COL1A2). COL1A1 gene, located on chromosome 17 at position 17q21.33.7, encodes the α1 chain of type I collagen [2]. Some articles found the connection between COL1A1 gene and other diseases in musculoskeletal system, such as sports-related tendon and ligament injuries [5], osteogenesis imperfecta [6, 7], osteosarcoma [8], idiopathic carpal tunnel syndrome [9]. Among various polymorphisms within the COL1A1 gene, the most frequently studied polymorphism is the +1245G/T polymorphism (rs1800012, Sp1), which is a G to T polymorphism siting within the first intron of COL1A1 gene influencing a binding site for the transcription factor Sp1 [4, 10]
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