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Lumbar disk degeneration, susceptibility to

MedGen UID:
390827
•Concept ID:
C2675551
•
Finding
Synonym: Lumbar disc degeneration, susceptibility to
 
Monarch Initiative: MONDO:0100206
OMIM®: 603932; 608135

Professional guidelines

PubMed

Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk alleles.
Zhu Y, Wu JJ, Weis MA, Mirza SK, Eyre DR
Spine (Phila Pa 1976) 2011 Nov 15;36(24):2031-8. doi: 10.1097/BRS.0b013e3181ffdd61. PMID: 21311409Free PMC Article
Association of interleukin-1 receptor antagonist gene polymorphism with response to conservative treatment of lumbar herniated nucleus pulposus.
Kim DH, Lee SH, Kim KT, Yu SD
Spine (Phila Pa 1976) 2010 Jul 15;35(16):1527-31. doi: 10.1097/BRS.0b013e3181e4efb6. PMID: 20581747

Recent clinical studies

Etiology

Modic Change: An Emerging Complication in the Aging Population.
Applebaum A, Nessim A, Cho W
Clin Spine Surg 2022 Feb 1;35(1):12-17. doi: 10.1097/BSD.0000000000001168. PMID: 33769981
Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.
Wu H, Wang S, Chen W, Zhan X, Xiao Z, Jiang H, Wei Q
J Orthop Surg Res 2018 Mar 5;13(1):47. doi: 10.1186/s13018-018-0750-0. PMID: 29506578Free PMC Article
Vitamin D receptor gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.
Jiang H, Qin Z, Zong S, He M, Zhan X, Xiao Z, Wei Q
Eur Spine J 2017 Jan;26(1):267-277. Epub 2016 Sep 9 doi: 10.1007/s00586-016-4771-2. PMID: 27613009
Genetics of lumbar disk degeneration: technology, study designs, and risk factors.
Kao PY, Chan D, Samartzis D, Sham PC, Song YQ
Orthop Clin North Am 2011 Oct;42(4):479-86, vii. doi: 10.1016/j.ocl.2011.07.011. PMID: 21944585
Lumbar disc degeneration: epidemiology and genetics.
Battié MC, Videman T
J Bone Joint Surg Am 2006 Apr;88 Suppl 2:3-9. doi: 10.2106/JBJS.E.01313. PMID: 16595435

Diagnosis

MAS-Net:Multi-modal Assistant Segmentation Network For Lumbar Intervertebral Disc.
Qinhong D, Yue H, Wendong B, Yukun D, Huan Y, Yongming X
Phys Med Biol 2023 Aug 29;68(17) doi: 10.1088/1361-6560/acef9f. PMID: 37567228
Spatial distribution of fat infiltration within the paraspinal muscles: implications for chronic low back pain.
Khattab K, Dziesinski LK, Crawford R, Ballatori A, Nyayapati P, Krug R, Fields A, O'Neill CW, Lotz JC, Bailey JF
Eur Spine J 2022 Nov;31(11):2875-2883. Epub 2022 Jul 1 doi: 10.1007/s00586-022-07296-7. PMID: 35776179Free PMC Article
Modic Change: An Emerging Complication in the Aging Population.
Applebaum A, Nessim A, Cho W
Clin Spine Surg 2022 Feb 1;35(1):12-17. doi: 10.1097/BSD.0000000000001168. PMID: 33769981
Association of Susceptibility Genes for Adolescent Idiopathic Scoliosis and Intervertebral Disc Degeneration With Adult Spinal Deformity.
Takeda K, Kou I, Hosogane N, Otomo N, Yagi M, Kaneko S, Kono H, Ishikawa M, Takahashi Y, Ikegami T, Nojiri K, Okada E, Funao H, Okuyama K, Tsuji T, Fujita N, Nagoshi N, Tsuji O, Ogura Y, Ishii K, Nakamura M, Matsumoto M, Ikegawa S, Watanabe K
Spine (Phila Pa 1976) 2019 Dec 1;44(23):1623-1629. doi: 10.1097/BRS.0000000000003179. PMID: 31365516
IL18RAP polymorphisms and its plasma levels in patients with Lumbar disc degeneration.
Mk S, Sm H, S A, Gk C, P Shukla D, I Bhat D
Clin Neurol Neurosurg 2019 Sep;184:105374. Epub 2019 May 22 doi: 10.1016/j.clineuro.2019.105374. PMID: 31147177

Therapy

Changes in Intervertebral Disc Properties after Intradiscal Injection of Condoliase for Painful Lumbar Disc Herniation.
Ohtonari T, Sakai K, Furukawa Y, Takeda Y
Neurol Med Chir (Tokyo) 2024 Jun 15;64(6):222-229. Epub 2024 May 8 doi: 10.2176/jns-nmc.2023-0302. PMID: 38719578Free PMC Article
Effect of whole-body vibration at different frequencies on the lumbar spine: A finite element study based on a whole human body model.
Zhang C, Guo LX
Proc Inst Mech Eng H 2022 Dec;236(12):1752-1761. Epub 2022 Nov 15 doi: 10.1177/09544119221135688. PMID: 36377853
Degenerate-disc infection study with contaminant control (DISC): a multicenter prospective case-control trial.
Rao PJ, Maharaj M, Chau C, Taylor P, Phan K, Choy WJ, Scherman D, Mews P, Scholsem M, Coughlan M, Mobbs R
Spine J 2020 Oct;20(10):1544-1553. Epub 2020 Apr 25 doi: 10.1016/j.spinee.2020.03.013. PMID: 32339766
Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.
Bjornsdottir G, Benonisdottir S, Sveinbjornsson G, Styrkarsdottir U, Thorleifsson G, Walters GB, Bjornsson A, Olafsson IH, Ulfarsson E, Vikingsson A, Hansdottir R, Karlsson KO, Rafnar T, Jonsdottir I, Frigge ML, Kong A, Oddsson A, Masson G, Magnusson OT, Gudbjartsson T, Stefansson H, Sulem P, Gudbjartsson D, Thorsteinsdottir U, Thorgeirsson TE, Stefansson K
Nat Commun 2017 Feb 22;8:14265. doi: 10.1038/ncomms14265. PMID: 28223688Free PMC Article
Progression and determinants of quantitative magnetic resonance imaging measures of lumbar disc degeneration: a five-year follow-up of adult male monozygotic twins.
Videman T, Battié MC, Parent E, Gibbons LE, Vainio P, Kaprio J
Spine (Phila Pa 1976) 2008 Jun 1;33(13):1484-90. doi: 10.1097/BRS.0b013e3181753bb1. PMID: 18475246

Prognosis

The association of lumbar intervertebral disc degeneration with low back pain is modified by underlying genetic propensity to pain.
Suri P, Naeini MK, Heagerty PJ, Freidin MB, Smith IG, Elgaeva EE, Compte R, Tsepilov YA, Williams FMK
Spine J 2025 Jan;25(1):8-17. Epub 2024 Jun 26 doi: 10.1016/j.spinee.2024.05.018. PMID: 38942297Free PMC Article
The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population.
Han P, Jiang F, Zhang L
Eur Spine J 2023 Apr;32(4):1106-1114. Epub 2023 Feb 21 doi: 10.1007/s00586-023-07586-8. PMID: 36810712
Genetics of lumbar disk degeneration: technology, study designs, and risk factors.
Kao PY, Chan D, Samartzis D, Sham PC, Song YQ
Orthop Clin North Am 2011 Oct;42(4):479-86, vii. doi: 10.1016/j.ocl.2011.07.011. PMID: 21944585
The genetics of intervertebral disc degeneration. Associated genes.
Kalichman L, Hunter DJ
Joint Bone Spine 2008 Jul;75(4):388-96. Epub 2008 May 15 doi: 10.1016/j.jbspin.2007.11.002. PMID: 18485784
Lumbar disc degeneration: epidemiology and genetics.
Battié MC, Videman T
J Bone Joint Surg Am 2006 Apr;88 Suppl 2:3-9. doi: 10.2106/JBJS.E.01313. PMID: 16595435

Clinical prediction guides

The association of lumbar intervertebral disc degeneration with low back pain is modified by underlying genetic propensity to pain.
Suri P, Naeini MK, Heagerty PJ, Freidin MB, Smith IG, Elgaeva EE, Compte R, Tsepilov YA, Williams FMK
Spine J 2025 Jan;25(1):8-17. Epub 2024 Jun 26 doi: 10.1016/j.spinee.2024.05.018. PMID: 38942297Free PMC Article
Why Are Some Intervertebral Discs More Prone to Degeneration?: Insights Into Isolated Thoracic "Dysgeneration".
Cheung STY, Cheung PWH, Cheung JPY
Spine (Phila Pa 1976) 2023 Jun 15;48(12):E177-E187. Epub 2023 Mar 22 doi: 10.1097/BRS.0000000000004632. PMID: 37262423Free PMC Article
The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population.
Han P, Jiang F, Zhang L
Eur Spine J 2023 Apr;32(4):1106-1114. Epub 2023 Feb 21 doi: 10.1007/s00586-023-07586-8. PMID: 36810712
Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study.
Wang Z, Chen L, Li Q, Zhang H, Shan Y, Qi L, Wang H, Chen Y
J Orthop Surg Res 2022 Oct 29;17(1):473. doi: 10.1186/s13018-022-03368-y. PMID: 36309697Free PMC Article
Genetic Predisposition to Symptomatic Lumbar Disk Herniation in Pediatric and Young Adult Patients.
Theodore N, Ahmed AK, Fulton T, Mousses S, Yoo C, Goodwin CR, Danielson J, Sciubba DM, Giers MB, Kalani MYS
Spine (Phila Pa 1976) 2019 Jun 1;44(11):E640-E649. doi: 10.1097/BRS.0000000000002949. PMID: 30475332

Recent systematic reviews

The role of TaqI, ApaI and BsmI polymorphisms of VDR gene in lumbar spine pathologies: systematic review and meta-analysis.
Castillo-Avila RG, González-Castro TB, Tovilla-Zárate CA, Juárez-Rojop IE, López-Narváez ML, Rodríguez-Pérez JM, Pérez-Hernández N
Eur Spine J 2021 Jul;30(7):2049-2059. Epub 2021 May 22 doi: 10.1007/s00586-021-06872-7. PMID: 34021784
Gene polymorphisms and expression levels of interleukin-6 and interleukin-10 in lumbar disc disease: a meta-analysis and immunohistochemical study.
Guan Y, Wang S, Wang J, Meng D, Wu H, Wei Q, Jiang H
J Orthop Surg Res 2020 Feb 18;15(1):54. doi: 10.1186/s13018-020-01588-8. PMID: 32070384Free PMC Article
Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.
Wu H, Wang S, Chen W, Zhan X, Xiao Z, Jiang H, Wei Q
J Orthop Surg Res 2018 Mar 5;13(1):47. doi: 10.1186/s13018-018-0750-0. PMID: 29506578Free PMC Article
Vitamin D receptor gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.
Jiang H, Qin Z, Zong S, He M, Zhan X, Xiao Z, Wei Q
Eur Spine J 2017 Jan;26(1):267-277. Epub 2016 Sep 9 doi: 10.1007/s00586-016-4771-2. PMID: 27613009
Genetic association studies in lumbar disc degeneration: a systematic review.
Eskola PJ, Lemmelä S, Kjaer P, Solovieva S, Männikkö M, Tommerup N, Lind-Thomsen A, Husgafvel-Pursiainen K, Cheung KM, Chan D, Samartzis D, Karppinen J
PLoS One 2012;7(11):e49995. Epub 2012 Nov 21 doi: 10.1371/journal.pone.0049995. PMID: 23185509Free PMC Article

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