Association of COL11A1 C4603T polymorphism with the risk of cervical and lumbar disc herniation

Authors

DOI:

https://doi.org/10.14739/2310-1210.2022.2.249482

Keywords:

gene polymorphism, collagen type XI, hernia, intervertebral disc

Abstract

Aim. To evaluate the association of COL11A1 gene C4603T polymorphism with the risk of cervical and lumbar disc herniation among Ukrainian people.

Materials and methods. In total, 97 patients (48 women and 49 men with a mean age of 34.49 ± 6.75 years) with lumbar and cervical disc herniation and 60 (30 women and 30 men with a mean of 35.00 ± 6.51 years) control subjects were included in the study. All participants underwent T2-weighted magnetic resonance imaging (MRI). Single nucleotide polymorphism С4603Т (rs1676486) of COL11A1 gene was detected by real-time polymerase chain reaction using Tag Man Universal PCR Master Mix (Applied Biosystems, USA) and Tag Man SNP Genotyping Assays (Applied Biosystems, USA).

Results. The study revealed the association of the COL11A1 gene C4603T polymorphism with a risk of lumbar L5-S1 herniation in the dominant (OR = 3.20; 95 % CI (1.34–7.50); P < 0.008) and multiplicative models (OR = 2.82; 95 % CI (1.34–5.93); P < 0.006). A statistical association of the polymorphism with lumbar L4-L5 herniation was not found. Carriers of the 4603Т allele had a four-fold higher risk of cervical herniation in the dominant model (OR =4.00; 95 % CI (1.37–11.79); P < 0.01), and three-fold higher – in the multiplicative model (OR = 3.12; 95 % CI (1.26–7.69); P < 0.05).

Conclusions. The study has shown the statistically significant association of the COL11A1 C4603T polymorphism with cervical and lumbar disc herniation among Ukrainian people. The 4603T allele presence should be considered when a sports career planning or occupational choice related to a heavy load on the cervical or lumbar spine.

Author Biographies

Ye. H. Pedachenko, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

MD, PhD, DSc, Professor, Academician of the National Academy of Medical Sciences of Ukraine, neurosurgeon, Research Supervisor of the Department of Miniinvasive and Laser Spinal Neurosurgery

I. H. Vasylieva, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

PhD, Head of the Department of Neurobiochemistry

M. V. Khyzhnyak, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

PhD, Head of the Department of Neurobiochemistry

O. S. Halanta, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

Researcher of the Department of Neurobiochemistry

N. H. Chopyk, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

PhD, Leading Researcher of the Department of Neurobiochemistry

О. І. Tsiubko, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

Researcher of the Department of Neurobiochemistry

A. В. Hriazov, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

MD, PhD, DSc, Head of the Department of Radiology

O. S. Nekhlopochyn, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

PhD, Researcher of the Department of Spinal Neurosurgery

Т. A. Ksenzov, Zaporizhzhia Regional Clinical Hospital, Zaporizhzhia, Ukraine

neurosurgeon of the Department of Neurosurgery

A. B. Dmytrenko, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

Junior Researcher of the Department of Neurobiochemistry

T. А. Makarova, SI “Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine”, Kyiv

Junior Researcher of the Department of Neurobiochemistry

References

Hafez, A., Squires, R., Pedracini, A., Joshi, A., Seegmiller, R. E., & Oxford, J. T. (2015). Col11a1 Regulates Bone Microarchitecture during Embryonic Development. Journal of Developmental Biology, 3(4), 158-176. https://doi.org/10.3390/jdb3040158

Feng, Y., Egan, B., & Wang, J. (2016). Genetic factors in intervertebral disc degeneration. Genes & Diseases, 3(3), 178-185. https://doi.org/10.1016/j.gendis.2016.04.005

Trefilova, V. V., Shnayder, N. A., Petrova, M. M., Kaskaeva, D. S., Tutynina, O. V., Petrov, K. V., Popova, T. E., Balberova, O. V., Medvedev, G. V., & Nasyrova, R. F. (2021). The Role of Polymorphisms in Collagen-Encoding Genes in Intervertebral Disc Degeneration. Biomolecules, 11(9), Article 1279. https://doi.org/10.3390/biom11091279

Liu, W., Sun, G., Guo, L., Wang, L., Fan, W., Lang, M., Chen, D., & Yi, X. (2017). A genetic variant in COL11A1 is functionally associated with lumbar disc herniation in Chinese population. Journal of Genetics, 96(6), 867-872. https://doi.org/10.1007/s12041-017-0874-8

Pfirrmann, C. W., Metzdorf, A., Zanetti, M., Hodler, J., & Boos, N. (2001). Magnetic resonance classification of lumbar intervertebral disc degeneration. Spine, 26(17), 1873-1878. https://doi.org/10.1097/00007632-200109010-00011

Janeczko, Ł., Janeczko, M., Chrzanowski, R., & Zieliński, G. (2014). The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease. Neurologia i Neurochirurgia Polska, 48(1), 60-62. https://doi.org/10.1016/j.pjnns.2013.04.001

Zielinska, N., Podgórski, M., Haładaj, R., Polguj, M., & Olewnik, Ł. (2021). Risk Factors of Intervertebral Disc Pathology - A Point of View Formerly and Today - A Review. Journal of Clinical Medicine, 10(3), Article 409. https://doi.org/10.3390/jcm10030409

Nallanthighal, S., Heiserman, J. P., & Cheon, D. J. (2021). Collagen Type XI Alpha 1 (COL11A1): A Novel Biomarker and a Key Player in Cancer. Cancers, 13(5), Article 935. https://doi.org/10.3390/cancers13050935

Videman, T., Saarela, J., Kaprio, J., Näkki, A., Levälahti, E., Gill, K., Peltonen, L., & Battié, M. C. (2009). Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing. Arthritis & Rheumatism, 60(2), 470-481. https://doi.org/10.1002/art.24268

Martirosyan, N. L., Patel, A. A., Carotenuto, A., Kalani, M. Y., Belykh, E., Walker, C. T., Preul, M. C., & Theodore, N. (2016). Genetic Alterations in Intervertebral Disc Disease. Frontiers in Surgery, 3, Article 59. https://doi.org/10.3389/fsurg.2016.00059

Koyama, K., Nakazato, K., Maeda, S., Kikuchi, N., Matsumoto, S., & Hiranuma, K. (2018). Association of COL11A1 4603C/T polymorphism with cervical disc degeneration in collegiate wrestlers. The Journal of Sports Medicine and Physical Fitness, 58(11), 1695-1700. https://doi.org/10.23736/S0022-4707.17.07724-6

Koyama, K., Nakazato, K., Min, S., Gushiken, K., Hatakeda, Y., Seo, K., & Hiranuma, K. (2012). COL11A1 Gene is Associated with Limbus Vertebra in Gymnasts. International Journal of Sports Medicine, 33(7), 586-590. https://doi.org/10.1055/s-0031-1299752

Xie, G., Liang, C., Yu, H., & Zhang, Q. (2021). Association between polymorphisms of collagen genes and susceptibility to intervertebral disc degeneration: a meta-analysis. Journal of Orthopaedic Surgery and Research, 16(1), Article 616. https://doi.org/10.1186/s13018-021-02724-8

Ohnishi, T., Novais, E. J., & Risbud, M. V. (2020). Alterations in ECM signature underscore multiple sub-phenotypes of intervertebral disc degeneration. Matrix Biology Plus, 6-7, Article 100036. https://doi.org/10.1016/j.mbplus.2020.100036

Published

2022-04-04

How to Cite

1.
Pedachenko YH, Vasylieva IH, Khyzhnyak MV, Halanta OS, Chopyk NH, Tsiubko ОІ, Hriazov AВ, Nekhlopochyn OS, Ksenzov ТA, Dmytrenko AB, Makarova TА. Association of COL11A1 C4603T polymorphism with the risk of cervical and lumbar disc herniation. Zaporozhye Medical Journal [Internet]. 2022Apr.4 [cited 2024Nov.26];24(2):163-7. Available from: http://zmj.zsmu.edu.ua/article/view/249482

Issue

Section

Original research