Table 1 Summary of identified COL9A3 variants and related information in disc diseases
From: A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation
Mutation | Phenotype | Region/race | Sample size | Significance | Conclusion | References |
|---|---|---|---|---|---|---|
p.Arg103Trp | Disc disease* | Finnish | 492 | Yes | Trp3 allele frequency was 12.2% in patients | Paassilta et al. [10] |
p.Arg103Trp | Disc degeneration | Finnish | 135 | Yes | Trp3 allele frequency was 17% in patients | Solovieva et al. [37] |
p.Arg103Trp | Disc disease | American | 14 | No | Trp3 allelic protein has no obvious effect on disc disease | Matsui et al. [38] |
p.Arg103Trp | Disc degeneration | Finnish | 85 | No | Trp3 allele alone is not likely to cause disc degeneration, but it may be one of the predisposing factors | Noponen et al. [39] |
p.Arg103Trp | Disc disease | Greek | 105 | No | Trp3 allele in COL9A3 is likely to be less significant susceptibility factors for intervertebral disc disease | Kales et al. [40] |
p.Arg103Trp | Disc degeneration | Chinese | 804 | No | The Trp3 allele was absent from the Southern Chinese population | Jim et al. [36] |
p.Arg103Trp | Disc degeneration | Finnish | 135 | No | The effect of the COL9A3 polymorphism on disc degeneration maybe modified by IL-1β polymorphism | Solovieva et al. [41] |
p.Arg103Trp | Disc degeneration | Japanese | 84 | No | No patients had the Trp3 allele | Higashino et al. [42] |
p.Arg103Trp | Disc disease | Finnish | 211 | No | Trp3 allele had less association with disc disease phenotype | Virtanen et al. [43] |
p.Arg103Trp | Disc disease | Finnish | 228 | No | Trp3 allele had less association with disc disease phenotype | Karppinen et al. [44] |
p.Arg103Trp | Disc degeneration | American | 133 | Yes | The product of the Trp3 allele may cause degeneration of intervertebral discs | Zhu et al. [11] |
p.Arg103Trp | Disc disease | Singaporean | 54 | No | The Trp3 allele was absent from all the subjects | Lim et al. [45] |
p.Arg103Trp | Disc disease | Indian | 100 | No | Allelic variation in COL9A3 was found to have no significant correlation with disc disease | Rathod et al. [46] |
p.Arg103Trp | Disc degeneration | Southern European | 100 | Yes | Trp3 allele was associated with more severe disc degeneration based on Pfirrmann scores | Toktas et al. [47] |
p.Arg103Trp | Disc degeneration | Iranian | 165 | Yes | Male patients with Trp3 allele were more likely to develop disc degeneration | Bagheri et al. [48] |
p.Arg103Trp | Disc herniation | American | 15 | No | Collagen-encoding variants may be a genetic risk factor for lumbar disc herniation | Theodore et al. [49] |
p.Arg103Trp | Disc herniation | Chinese | 768 | Yes | Trp3 allele significantly influence the risk of lumbar disc herniation | Yang et al. [50] |
p.Arg384Trp | Disc herniation | Chinese | 3 | – | A novel heterozygous missense variant co-segregating with phenotypes, was predicted to be pathogenic | Current case |