Subscribe to RSS
Download PDF
DOI: 10.1055/s-0045-1809898
Genetic Association in the Pathophysiology of Degenerative Cervical Disc Disease: Defining Roles?
Abstract
Background
Degenerative cervical myelopathy (DCM), encompassing cervical spondylotic myelopathy and posterior longitudinal ligament ossification, is now being documented frequently and significantly burdening the health care systems. The pathogenesis of DCM remains somewhat obscure, and the focus is now on identifying the role of genetic risk factors. Identifying these risk factors is essential for formulating future studies for novel preventive and therapeutic measures.
Materials and Methods
In a cohort study, we evaluated the genetic association of two genes involved in the pathophysiology of DCM, that is, COL11A1 (single-nucleotide polymorphism [SNP] rs1337185) and ADAMTS5 (SNP rs162509).
Results
A total of 60 subjects (27 with DCM and 33 without DCM) were included. The primary and minor allelic frequencies were evaluated and compared between the cohorts. Significant association was found for SNP rs162509 of gene ADAMTS5 for DCM (odds ratio [OR] 2.5375, 95% confidence interval [CI] 0.655–9.89, p = 0.177), whereas no conclusive relation was found for SNP rs1337185 of the COL11A1 gene (OR 0.93, 95% CI 0.24–3.68, p = 0.91).
Conclusion
Preliminary data from our study identify a probable association of two candidate genes, which play a pivotal role in the matrix synthesis and degradation. The complex etiopathogenesis of DCM may be guided by alterations in these genes and mediated through the altered gene products. Further studies are needed to substantiate and validate this.
Publication History
Article published online:
23 June 2025
© 2025. Asian Congress of Neurological Surgeons. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India
-
References
- 1 Nouri A, Tetreault L, Singh A, Karadimas SK, Fehlings MG. Degenerative cervical myelopathy: epidemiology, genetics, and pathogenesis. Spine 2015; 40 (12) E675-E693
- 2 Bhojraj SY, Bang AA, Deshmukh M. et al. Clinical patterns and their prevalence among adult population with back pain: a community-based cross-sectional study in rural Gadchiroli, India. J Glob Health 2021; 11: 12004
- 3 Adams MA, Roughley PJ. What is intervertebral disc degeneration, and what causes it?. Spine 2006; 31 (18) 2151-2161
- 4 Videman T, Saarela J, Kaprio J. et al. Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing. Arthritis Rheum 2009; 60 (02) 470-481
- 5 Rathod TN, Chandanwale AS, Gujrathi S, Patil V, Chavan SA, Shah MN. Association between single nucleotide polymorphism in collagen IX and intervertebral disc disease in the Indian population. Indian J Orthop 2012; 46 (04) 420-426
- 6 Rajasekaran S, Kanna RM, Senthil N. et al. Genetic susceptibility of lumbar degenerative disc disease in young Indian adults. Eur Spine J 2015; 24 (09) 1969-1975
- 7 Watanabe H, Yamada Y, Kimata K. Roles of aggrecan, a large chondroitin sulfate proteoglycan, in cartilage structure and function. J Biochem 1998; 124 (04) 687-693
- 8 Chen Y, Chen K, Li M. et al. Genes associated with disc degeneration identified using microarray gene expression profiling and bioinformatics analysis. Genet Mol Res 2013; 12 (02) 1431-1439
- 9 Suzuki A, Daubs MD, Hayashi T. et al. Patterns of cervical disc degeneration: analysis of magnetic resonance imaging of over 1000 symptomatic subjects. Global Spine J 2018; 8 (03) 254-259
- 10 Boos N, Weissbach S, Rohrbach H, Weiler C, Spratt KF, Nerlich AG. Classification of age-related changes in lumbar intervertebral discs: 2002 Volvo Award in basic science. Spine 2002; 27 (23) 2631-2644
- 11 Sambrook PN, MacGregor AJ, Spector TD. Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins. Arthritis Rheum 1999; 42 (02) 366-372
- 12 Mio F, Chiba K, Hirose Y. et al. A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. Am J Hum Genet 2007; 81 (06) 1271-1277
- 13 Solovieva S, Lohiniva J, Leino-Arjas P. et al. Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. Eur Spine J 2006; 15 (05) 613-619
- 14 Raine EV, Dodd AW, Reynard LN, Loughlin J. Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues. BMC Musculoskelet Disord 2013; 14: 85
- 15 Stanton H, Rogerson FM, East CJ. et al. ADAMTS5 is the major aggrecanase in mouse cartilage in vivo and in vitro. Nature 2005; 434 (7033): 648-652
- 16 Liu S, Wu N, Liu J. et al. Association between ADAMTS-4 gene polymorphism and lumbar disc degeneration in Chinese Han population. J Orthop Res 2016; 34 (05) 860-864
- 17 Jiang H, Yang Q, Jiang J, Zhan X, Xiao Z. Association between COL11A1 (rs1337185) and ADAMTS5 (rs162509) gene polymorphisms and lumbar spine pathologies in Chinese Han population: an observational study. BMJ Open 2017; 7 (05) e015644