An Allele of
            <i>COL9A2</i>
            Associated with Intervertebral Disc Disease

Annunen, Susanna; Paassilta, Petteri; Lohiniva, Jaana; Perälä, Merja; Pihlajamaa, Tero; Karppinen, Jaro; Tervonen, Osmo; Kröger, Heikki; Lähde, S; Vanharanta, Heikki; Ryhänen, Lasse; Göring, Harald H.H.; Ott, Jürg; Prockop, Darwin J.; Ala‐Kokko, Leena

doi:10.1126/science.285.5426.409

Cited by 331 publications

(218 citation statements)

References 40 publications

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“…Another explanation could be that VESC is more prevalent in Europe, perhaps on the basis of specific genes that are associated with (1) an increased risk of tissue injury, (2) and increased response to injury, or (3) a decreased ability to heal injured tissue. In support of this theory, there are different prevalence rates of genes associated with disc degeneration for individuals from Northern Europe as compared to Asian populations [5,67,112,128,147]. Also, a recent study suggests that VESC may be related to increased response to injury, as a combination of specific genes (IL1A and MMP-3) increased the odds of having type 2 changes by eight times [73].…”

Section: Discussionmentioning

confidence: 71%

Vertebral endplate signal changes (Modic change): a systematic literature review of prevalence and association with non-specific low back pain

Jensen

Karppinen

Sorensen³

et al. 2008

Eur Spine J

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397

297

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The prevalence of ''vertebral endplate signal changes'' (VESC) and its association with low back pain (LBP) varies greatly between studies. This wide range in reported prevalence rates and associations with LBP could be explained by differences in the definitions of VESC, LBP, or study sample. The objectives of this systematic critical review were to investigate the current literature in relation to the prevalence of VESC (including Modic changes) and the association with non-specific low back pain (LBP). The MEDLINE, EMBASE, and SveMED databases were searched for the period 1984 to November 2007. Included were the articles that reported the prevalence of VESC in non-LBP, general, working, and clinical populations. Included were also articles that investigated the association between VESC and LBP. Articles on specific LBP conditions were excluded. A checklist including items related to the research questions and overall quality of the articles was used for data collection and quality assessment. The reported prevalence rates were studied in relation to mean age, gender, study sample, year of publication, country of study, and quality score. To estimate the association between VESC and LBP, 2 9 2 tables were created to calculate the exact odds ratio (OR) with 95% confidence intervals. Eighty-two study samples from 77 original articles were identified and included in the analysis. The median of the reported prevalence rates for any type of VESC was 43% in patients with non-specific LBP and/or sciatica and 6% in non-clinical populations. The prevalence was positively associated with age and was negatively associated with the overall quality of the studies. A positive association between VESC and non-specific LBP was found in seven of ten studies from the general, working, and clinical populations with ORs from 2.0 to 19.9. This systematic review shows that VESC is a common MRI-finding in patients with non-specific LBP and is associated with pain. However, it should be noted that VESC may be present in individuals without LBP.

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Section: Discussionmentioning

confidence: 71%

Vertebral endplate signal changes (Modic change): a systematic literature review of prevalence and association with non-specific low back pain

Jensen

Karppinen

Sorensen³

et al. 2008

Eur Spine J

Self Cite

397

297

View full text Add to dashboard Cite

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“…Whether the degeneration is the result of a loss of mechanical integrity in the disc or the mechanical loading itself being a precipitating factor of the degeneration, is still unresolved [1,82]. Recent evidence suggests that genetic factors are also important [5,11,28,68,80]. Nonetheless, degeneration of IVDs has been characterized extensively indicating that degeneration involves changes in disc morphology, composition of ECM, as well as loss of disc cells, proteoglycan and water content.…”

Section: Intervertebral Disc Degenerationmentioning

confidence: 99%

Regeneration of intervertebral disc by mesenchymal stem cells: potentials, limitations, and future direction

2006

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Over the past few years, substantial progress has been made in the field of stem cell regeneration of the intervertebral disc. Autogenic mesenchymal stem cells in animal models can arrest intervertebral disc degeneration or even partially regenerate it and the effect is suggested to be dependent on the severity of degeneration. Mesenchymal stem cells (MSCs) are able to escape alloantigen recognition which is an advantage for allogenic transplantation. A number of injectable scaffolds have been described and various methods to pre-modulate MSCs' activity have been tested. In future, work will need to address the use of mesenchymal stem cells in large animal models and the fate of the implanted mesenchymal stem cells, particularly in the long term, in animals. This review examines the state-of-the-art in the field of stem cell regeneration of the intervertebral disc, and critically discusses, with scientific support, the issues involved, before stem cells could be used in human subjects. [79,81]. In the development of organism, the single totipotent cell after fertilization divides and specializes into pluripotent cells, such as embryonic stem cells that are necessary for fetal development. The pluripotent cells then further specialize into multipotent cells that commit into lineages with tissue-specific functions. Cells have been successfully identified in or isolated from embryonic [70], fetal [34, 73], or adult tissues [45] and demonstrated to have stem cell-like properties in vitro and in vivo. The maintenance, survival and activity of these stem cells is suggested to be dependent on the special micro-environmental niche [45], such that uncommitted pluripotent stem cells can be induced to differentiate to form a particular cell type by the nature of the environment. Additionally, the pluripotency of stem cells depends on the source, the method of isolation, and conditions of ex-vivo cell processing.

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“…Several studies have found familial predisposition to LDD, including early onset sciatica and lumbar disc herniation. In addition, mutations or polymorphisms in several genes have been reported to be associated with either the presence or severity of disc degeneration, including gene coding for collagen IX and XI [2,12,13], aggrecan [9], cartilage intermediate layer protein [18], vitamin D receptor [22], interleukin-1 [19], matrix metalloproteinase-3(MMP-3) [20], tissue inhibitor of metalloproteinase-1(TIMP-1) [21], and cyclooxygenase-2 [21].…”

Section: Introductionmentioning

confidence: 99%

Association between the -1306C/T polymorphism of matrix metalloproteinase-2 gene and lumbar disc disease in Chinese young adults

et al. 2007

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Matrix metalloproteinase-2 (MMP-2) has been shown to play a pivotal role in the pathophysiology of lumbar disc disease (LDD). Increased expression and activity of MMP-2 has been documented in degenerative discs. The polymorphism -1306C/T in the promoter region of MMP-2 gene was reported to influence gene transcription and expression. The objective of this study was therefore to investigate the possible association of MMP-2 -1306C/T polymorphism with the occurrence and the clinical characteristics of LDD. MMP-2 genotypes were determined by polymerase chain reaction (PCR) and direct DNA sequencing in a case-control study involving 162 younger patients with LDD and 318 age-and sex-matched healthy adults. The results showed that the frequency of MMP-2 -1306CC genotype was significantly higher in LDD patients when compared with controls. Subjects with the CC genotype had nearly threefold increased risk for LDD (odds ratio 3.08; 95% confidence interval 1.84-5.16) compared with subjects carrying at least one variant T allele. Furthermore, this genotype was found to correlate with more severe grades of disc degeneration observed on magnetic resonance imaging scan. These findings suggest that MMP-2 -1306C/T polymorphism may be a genetic risk factor related to LDD susceptibility in the young adult population.

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An Allele of COL9A2 Associated with Intervertebral Disc Disease

Cited by 331 publications

References 40 publications

Vertebral endplate signal changes (Modic change): a systematic literature review of prevalence and association with non-specific low back pain

Vertebral endplate signal changes (Modic change): a systematic literature review of prevalence and association with non-specific low back pain

Regeneration of intervertebral disc by mesenchymal stem cells: potentials, limitations, and future direction

Association between the -1306C/T polymorphism of matrix metalloproteinase-2 gene and lumbar disc disease in Chinese young adults

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