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Intervertebral disc disease, susceptibility to

MedGen UID:
864400
•Concept ID:
C4015963
•
Finding
Synonym: INTERVERTEBRAL DISC DISEASE, SUSCEPTIBILITY TO
 
OMIM®: 120270

Recent clinical studies

Etiology

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations.
Salo V, Määttä J, Sliz E; FinnGen, Reimann E, Mägi R; Estonian Biobank Research Team, Reis K, Elhanas AG, Reigo A, Palta P, Esko T, Karppinen J, Kettunen J
Nat Commun 2024 Nov 7;15(1):9424. doi: 10.1038/s41467-024-53467-z. PMID: 39511132Free PMC Article
Genetic risk factors for lumbar disc disease.
Doraisamy R, Ramaswami K, Shanmugam J, Subramanian R, Sivashankaran B
Clin Anat 2021 Jan;34(1):51-56. Epub 2020 Jul 21 doi: 10.1002/ca.23641. PMID: 32583875
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
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
Advances in susceptibility genetics of intervertebral degenerative disc disease.
Zhang Y, Sun Z, Liu J, Guo X
Int J Biol Sci 2008 Sep 2;4(5):283-90. doi: 10.7150/ijbs.4.283. PMID: 18781226Free PMC Article

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
The interaction between aggrecan gene VNTR polymorphism and obesity in predicting incident symptomatic lumbar disc herniation.
Cong L, Zhu Y, Pang H, Guanjun TU
Connect Tissue Res 2014 Oct-Dec;55(5-6):384-90. Epub 2014 Sep 22 doi: 10.3109/03008207.2014.959117. PMID: 25188217
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P
Am J Med Genet A 2014 Jan;164A(1):42-7. Epub 2013 Nov 22 doi: 10.1002/ajmg.a.36165. PMID: 24273071
Is the interleukin-6 haplotype a prognostic factor for sciatica?
Karppinen J, Daavittila I, Noponen N, Haapea M, Taimela S, Vanharanta H, Ala-Kokko L, Männikkö M
Eur J Pain 2008 Nov;12(8):1018-25. Epub 2008 Mar 5 doi: 10.1016/j.ejpain.2008.01.009. PMID: 18321738
The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients.
Kales SN, Linos A, Chatzis C, Sai Y, Halla M, Nasioulas G, Christiani DC
Spine (Phila Pa 1976) 2004 Jun 1;29(11):1266-70. doi: 10.1097/00007632-200406010-00017. PMID: 15167667

Therapy

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
Is the interleukin-6 haplotype a prognostic factor for sciatica?
Karppinen J, Daavittila I, Noponen N, Haapea M, Taimela S, Vanharanta H, Ala-Kokko L, Männikkö M
Eur J Pain 2008 Nov;12(8):1018-25. Epub 2008 Mar 5 doi: 10.1016/j.ejpain.2008.01.009. PMID: 18321738

Prognosis

Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population.
Jiang H, Moro A, Liu Y, Wang J, Meng D, Zhan X, Wei Q
Sci Rep 2020 Dec 3;10(1):21069. doi: 10.1038/s41598-020-78249-7. PMID: 33273635Free PMC Article
The Evaluation of Proteoglycan Levels and the Possible Role of ACAN Gene (c.6423T>C) Variant in Patients with Lumbar Disc Degeneration Disease.
Yaltirik CK, Timirci-Kahraman Ö, Gulec-Yilmaz S, Ozdogan S, Atalay B, Isbir T
In Vivo 2019 Mar-Apr;33(2):413-417. doi: 10.21873/invivo.11488. PMID: 30804119Free PMC Article
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
The interaction between aggrecan gene VNTR polymorphism and obesity in predicting incident symptomatic lumbar disc herniation.
Cong L, Zhu Y, Pang H, Guanjun TU
Connect Tissue Res 2014 Oct-Dec;55(5-6):384-90. Epub 2014 Sep 22 doi: 10.3109/03008207.2014.959117. PMID: 25188217
Is the interleukin-6 haplotype a prognostic factor for sciatica?
Karppinen J, Daavittila I, Noponen N, Haapea M, Taimela S, Vanharanta H, Ala-Kokko L, Männikkö M
Eur J Pain 2008 Nov;12(8):1018-25. Epub 2008 Mar 5 doi: 10.1016/j.ejpain.2008.01.009. PMID: 18321738

Clinical prediction guides

The Evaluation of Proteoglycan Levels and the Possible Role of ACAN Gene (c.6423T>C) Variant in Patients with Lumbar Disc Degeneration Disease.
Yaltirik CK, Timirci-Kahraman Ö, Gulec-Yilmaz S, Ozdogan S, Atalay B, Isbir T
In Vivo 2019 Mar-Apr;33(2):413-417. doi: 10.21873/invivo.11488. PMID: 30804119Free PMC Article
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
The interaction between aggrecan gene VNTR polymorphism and obesity in predicting incident symptomatic lumbar disc herniation.
Cong L, Zhu Y, Pang H, Guanjun TU
Connect Tissue Res 2014 Oct-Dec;55(5-6):384-90. Epub 2014 Sep 22 doi: 10.3109/03008207.2014.959117. PMID: 25188217
Is the interleukin-6 haplotype a prognostic factor for sciatica?
Karppinen J, Daavittila I, Noponen N, Haapea M, Taimela S, Vanharanta H, Ala-Kokko L, Männikkö M
Eur J Pain 2008 Nov;12(8):1018-25. Epub 2008 Mar 5 doi: 10.1016/j.ejpain.2008.01.009. PMID: 18321738
An allele of COL9A2 associated with intervertebral disc disease.
Annunen S, Paassilta P, Lohiniva J, Perälä M, Pihlajamaa T, Karppinen J, Tervonen O, Kröger H, Lähde S, Vanharanta H, Ryhänen L, Göring HH, Ott J, Prockop DJ, Ala-Kokko L
Science 1999 Jul 16;285(5426):409-12. doi: 10.1126/science.285.5426.409. PMID: 10411504

Recent systematic reviews

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
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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