Abstract
BackgroundCollagens are important structural components of intervertebral disc. A number of studies have been performed for association between polymorphisms of collagen genes and risk of intervertebral disc degeneration (IVDD) but yielded inconsistent results. Here, we performed a meta-analysis to investigate the association of collagen IX alpha 2 (COL9A2) Trp2, collagen IX alpha 3 (COL9A3) Trp3, collagen I alpha 1 (COL1A1) Sp1 and collagen XI alpha 1 (COL11A1) C4603T polymorphisms with susceptibility to IVDD.MethodEligible studies were retrieved by searching MEDLINE, EMBASE, Web of Science prior to 31 March, 2021. Odds ratio (OR) and corresponding 95% confidence interval (CI) were calculated for association strength.ResultsA total of 28 eligible studies (31 datasets comprising 5497 cases and 5335 controls) were included. COL9A2 Trp2 carriers had an increased risk of IVDD than non-carriers in overall population (OR = 1.43, 95% CI 0.99–2.06, P = 0.058), which did not reach statistical significance. However, Trp2 carriers had 2.62-fold (95% CI 1.15–6.01, P = 0.022) risk than non-carriers in Caucasians. COL9A3 Trp3 was not associated with IVDD risk (OR = 1.28, 95% CI 0.81–2.02, P = 0.299). T allele and TT genotype of COL1A1 Sp1 (+ 1245G > T) were correlated with increased risk of IVDD. Significant associations were found between COL11A1 C4603T and IVDD risk under allelic (OR = 1.33, 95% CI 1.20–1.48), dominant (OR = 1.45, 95% CI 1.26–1.67), recessive (OR = 1.55, 95% CI 1.21–1.98) and homozygote model (OR = 1.81, 95% CI 1.40–2.34).ConclusionsCOL1A1 Sp1 and COL11A1 C4603T polymorphism are associated with IVDD risk while the predictive roles of collagen IX gene Trp2/3 need verification in more large-scale studies.
Highlights
Collagens are important structural components of intervertebral disc
Collagen IX alpha 2 (COL9A2) Trp2 carriers had an increased risk of intervertebral disc degeneration (IVDD) than non-carriers in overall population (OR = 1.43, 95% confidence interval (CI) 0.99–2.06, P = 0.058), which did not reach statistical significance
Collagen IX alpha 3 (COL9A3) Trp3 was not associated with IVDD risk (OR = 1.28, 95% confidence interval (95% CI) 0.81–2.02, P = 0.299)
Summary
Collagens are important structural components of intervertebral disc. A number of studies have been performed for association between polymorphisms of collagen genes and risk of intervertebral disc degeneration (IVDD) but yielded inconsistent results. Xie et al J Orthop Surg Res (2021) 16:616 genes encoding collagens [6], carbohydrate sulfotransferase (CHST) [7], interleukins [8], matrix metalloproteinases (MMP) [9], apoptosis-inducing ligand (TRAIL) [10] and growth differentiation factors (GDF) [11] have been investigated These genes can be functionally incorporated into categories of intervertebral disc structure, structural support, cytokines, extracellular matrix-degrading enzymes, apoptotic factors, growth factors [5], each of which plays a different role in the development of disc degeneration. A common missense variant (c.C4603T;p.Ser1535Pro, rs1676486) of COL11A1 encoding the α1 chain of collage XI was identified as a risk factor of IVDD in Japanese and Chinese populations [21, 22] These putatively functional polymorphisms may participate in the development of disc degeneration through altering the gene expression pattern or interaction with other collagens
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
