Intervertebral Disc Biology: Genetic Basis of Disc Degeneration

doi:10.1007/s40610-018-0101-2

Review

. 2018;4(4):143-150.

doi: 10.1007/s40610-018-0101-2. Epub 2018 Aug 3.

Intervertebral Disc Biology: Genetic Basis of Disc Degeneration

Sabrina Munir¹, Marinko Rade^{2

3}, Juhani H Määttä^{1

4}, Maxim B Freidin¹, Frances M K Williams¹

Affiliations

¹ 1Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King's College London, London, UK.
² 2Department of Physical and Rehabilitation Medicine, Kuopio University Hospital, Kuopio, Finland.
³ 3Faculty of Medicine, Orthopaedic and Rehabilitation Hospital "Prim. dr.Martin Horvat", Josip Juraj Strossmayer University of Osijek, Rovinj, Croatia.
⁴ 4Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.

PMID: 30464887
PMCID: PMC6223888
DOI: 10.1007/s40610-018-0101-2

Review

Intervertebral Disc Biology: Genetic Basis of Disc Degeneration

Sabrina Munir et al. Curr Mol Biol Rep. 2018.

. 2018;4(4):143-150.

doi: 10.1007/s40610-018-0101-2. Epub 2018 Aug 3.

Authors

Sabrina Munir¹, Marinko Rade^{2

3}, Juhani H Määttä^{1

4}, Maxim B Freidin¹, Frances M K Williams¹

Affiliations

¹ 1Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King's College London, London, UK.
² 2Department of Physical and Rehabilitation Medicine, Kuopio University Hospital, Kuopio, Finland.
³ 3Faculty of Medicine, Orthopaedic and Rehabilitation Hospital "Prim. dr.Martin Horvat", Josip Juraj Strossmayer University of Osijek, Rovinj, Croatia.
⁴ 4Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.

PMID: 30464887
PMCID: PMC6223888
DOI: 10.1007/s40610-018-0101-2

Abstract

Purpose of review: This review aims to highlight recent advances in understanding the genetic basis of intervertebral disc degeneration (IDD).

Recent findings: It has been known for some time that IDD is highly heritable. Recent studies, and in particular the availability of agnostic techniques such as genome-wide association studies, have identified new variants in a variety of genes which contribute to the risk of IDD and to back pain.

Summary: A variety of genetic variants are involved in IDD. Some are shared with variants predisposing to back pain, but few have been identified reliably in either phenotype. Further research is required to explain fully the high heritability and how the genetic variants influence cell biology to lead to IDD.

Keywords: Candidate genes; GWAS; Heritability; Intervertebral disc degeneration (IDD); Low back pain (LBP); Spine.

PubMed Disclaimer

Conflict of interest statement

Sabrina Munir, Juhani H Määttä, Marinko Rade, Maxim B Freidin and Frances MK Williams each declare no potential conflicts of interest.This article does not contain any studies with human or animal subjects performed by any of the authors.

Cited by

Dysregulation of STAT3 signaling is associated with endplate-oriented herniations of the intervertebral disc in Adgrg6 mutant mice.
Liu Z, Easson GWD, Zhao J, Makki N, Ahituv N, Hilton MJ, Tang SY, Gray RS. Liu Z, et al. PLoS Genet. 2019 Oct 25;15(10):e1008096. doi: 10.1371/journal.pgen.1008096. eCollection 2019 Oct. PLoS Genet. 2019. PMID: 31652254 Free PMC article.
A protocol for recruiting and analyzing the disease-oriented Russian disc degeneration study (RuDDS) biobank for functional omics studies of lumbar disc degeneration.
Leonova ON, Elgaeva EE, Golubeva TS, Peleganchuk AV, Krutko AV, Aulchenko YS, Tsepilov YA. Leonova ON, et al. PLoS One. 2022 May 13;17(5):e0267384. doi: 10.1371/journal.pone.0267384. eCollection 2022. PLoS One. 2022. PMID: 35560143 Free PMC article.
DIPPER, a spatiotemporal proteomics atlas of human intervertebral discs for exploring ageing and degeneration dynamics.
Tam V, Chen P, Yee A, Solis N, Klein T, Kudelko M, Sharma R, Chan WC, Overall CM, Haglund L, Sham PC, Cheah KSE, Chan D. Tam V, et al. Elife. 2020 Dec 31;9:e64940. doi: 10.7554/eLife.64940. Elife. 2020. PMID: 33382035 Free PMC article.
A Comprehensive Review of Genetic Variations in Collagen-Encoding Genes and Their Implications in Intervertebral Disc Degeneration.
Goel S, Deshpande S, Dhaniwala N, Singh R, Suneja A, Jadawala VH. Goel S, et al. Cureus. 2024 Jan 22;16(1):e52708. doi: 10.7759/cureus.52708. eCollection 2024 Jan. Cureus. 2024. PMID: 38384607 Free PMC article. Review.
Toward the Identification of Distinct Phenotypes: Research Protocol for the Low Back Pain Biological, Biomechanical, and Behavioral (LB3P) Cohort Study and the BACPAC Mechanistic Research Center at the University of Pittsburgh.
Vo NV, Piva SR, Patterson CG, McKernan GP, Zhou L, Bell KM, Anderst W, Greco CM, Schneider MJ, Delitto A, Dicianno BE, Darwin J, Sowa GA. Vo NV, et al. Pain Med. 2023 Aug 4;24(Suppl 1):S36-S47. doi: 10.1093/pm/pnad009. Pain Med. 2023. PMID: 36715642 Free PMC article.

See all "Cited by" articles

References

1. Hoy Damian, March Lyn, Brooks Peter, Blyth Fiona, Woolf Anthony, Bain Christopher, Williams Gail, Smith Emma, Vos Theo, Barendregt Jan, Murray Chris, Burstein Roy, Buchbinder Rachelle. The global burden of low back pain: estimates from the Global Burden of Disease 2010 study. Annals of the Rheumatic Diseases. 2014;73(6):968–974. doi: 10.1136/annrheumdis-2013-204428. - DOI - PubMed
1. Lidgren L. The bone and joint decade 2000-2010. Bull World Health Organ. 2003;81(9):629. - PMC - PubMed
1. Walker BF. The prevalence of low back pain: a systematic review of the literature from 1966 to 1998. Clin Spine Surg. 2000;13(3):205–217. - PubMed
1. Steenstra IA, Verbeek JH, Heymans MW, Bongers PM. Prognostic factors for duration of sick leave in patients sick listed with acute low back pain: a systematic review of the literature. Occup Environ Med. 2005;62(12):851–860. doi: 10.1136/oem.2004.015842. - DOI - PMC - PubMed
1. Dagenais S, Caro J, Haldeman S. A systematic review of low back pain cost of illness studies in the United States and internationally. Spine J. 2008;8(1):8–20. doi: 10.1016/j.spinee.2007.10.005. - DOI - PubMed

Publication types

Actions

LinkOut - more resources

Full Text Sources
- Europe PubMed Central
- PubMed Central
Research Materials
- NCI CPTC Antibody Characterization Program
Miscellaneous
- NCI CPTAC Assay Portal

[1] Hoy Damian, March Lyn, Brooks Peter, Blyth Fiona, Woolf Anthony, Bain Christopher, Williams Gail, Smith Emma, Vos Theo, Barendregt Jan, Murray Chris, Burstein Roy, Buchbinder Rachelle. The global burden of low back pain: estimates from the Global Burden of Disease 2010 study. Annals of the Rheumatic Diseases. 2014;73(6):968–974. doi: 10.1136/annrheumdis-2013-204428. - DOI - PubMed

[2] Hoy Damian, March Lyn, Brooks Peter, Blyth Fiona, Woolf Anthony, Bain Christopher, Williams Gail, Smith Emma, Vos Theo, Barendregt Jan, Murray Chris, Burstein Roy, Buchbinder Rachelle. The global burden of low back pain: estimates from the Global Burden of Disease 2010 study. Annals of the Rheumatic Diseases. 2014;73(6):968–974. doi: 10.1136/annrheumdis-2013-204428. - DOI - PubMed

[3] Lidgren L. The bone and joint decade 2000-2010. Bull World Health Organ. 2003;81(9):629. - PMC - PubMed

[4] Lidgren L. The bone and joint decade 2000-2010. Bull World Health Organ. 2003;81(9):629. - PMC - PubMed

[5] Walker BF. The prevalence of low back pain: a systematic review of the literature from 1966 to 1998. Clin Spine Surg. 2000;13(3):205–217. - PubMed

[6] Walker BF. The prevalence of low back pain: a systematic review of the literature from 1966 to 1998. Clin Spine Surg. 2000;13(3):205–217. - PubMed

[7] Steenstra IA, Verbeek JH, Heymans MW, Bongers PM. Prognostic factors for duration of sick leave in patients sick listed with acute low back pain: a systematic review of the literature. Occup Environ Med. 2005;62(12):851–860. doi: 10.1136/oem.2004.015842. - DOI - PMC - PubMed

[8] Steenstra IA, Verbeek JH, Heymans MW, Bongers PM. Prognostic factors for duration of sick leave in patients sick listed with acute low back pain: a systematic review of the literature. Occup Environ Med. 2005;62(12):851–860. doi: 10.1136/oem.2004.015842. - DOI - PMC - PubMed

[9] Dagenais S, Caro J, Haldeman S. A systematic review of low back pain cost of illness studies in the United States and internationally. Spine J. 2008;8(1):8–20. doi: 10.1016/j.spinee.2007.10.005. - DOI - PubMed

[10] Dagenais S, Caro J, Haldeman S. A systematic review of low back pain cost of illness studies in the United States and internationally. Spine J. 2008;8(1):8–20. doi: 10.1016/j.spinee.2007.10.005. - DOI - PubMed

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Intervertebral Disc Biology: Genetic Basis of Disc Degeneration

Affiliations

Intervertebral Disc Biology: Genetic Basis of Disc Degeneration

Authors

Affiliations

Abstract

Conflict of interest statement

Similar articles

Cited by

References

Publication types

LinkOut - more resources

Full Text Sources

Research Materials

Miscellaneous