Genetic background of degenerative disc disease in the lumbar spine

Kawaguchi, Yoshiharu

doi:10.22603/ssrr.2017-0007

Cited by 30 publications

(29 citation statements)

References 116 publications

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“…Further, recent genome‐wide association meta‐analyses identified novel candidate genes, including PARK2 and CHST3 . An excellent review focusing on the extensive candidate genes was published recently . Many of these candidate genes are known to constitute the extracellular matrix (ECM) of IVD or be involved in ECM turnover, and, thus, they determine the size and mechanical property of the IVD by nature.…”

Section: Risk Factors For Idd From Epidemiologic Studiesmentioning

confidence: 99%

“…33 An excellent review focusing on the extensive candidate genes was published recently. 34 Many of these candidate genes are known to constitute the extracellular matrix (ECM) of IVD or be involved in ECM turnover, and, thus, they determine the size and mechanical property of the IVD by nature. Genetic defects in these genes presumably render the IVD more vulnerable against external force, leading to early onset of IDD.…”

Section: Genetic Factorsmentioning

confidence: 99%

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Pathomechanism of intervertebral disc degeneration

et al. 2020

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Intervertebral disc degeneration (IDD) is the main contributor to low back pain, which is a leading cause of disability worldwide. Although substantial progress has been made in elucidating the molecular mechanisms of IDD, fundamental and long‐lasting treatments for IDD are still lacking. With increased understanding of the complex pathomechanism of IDD, alternative strategies for treating IDD can be discovered. A brief overview of the prevalence and epidemiologic risk factors of IDD is provided in this review, followed by the descriptions of anatomic, cellular, and molecular structure of the intervertebral disc as well as the molecular pathophysiology of IDD. Finally, the recent findings of intervertebral disc progenitors are reviewed and the future perspectives are discussed.

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Section: Risk Factors For Idd From Epidemiologic Studiesmentioning

confidence: 99%

Section: Genetic Factorsmentioning

confidence: 99%

Pathomechanism of intervertebral disc degeneration

et al. 2020

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“…It has been suggested that the factors mediating these changes are genetic, nutritional and mechanical (65,66). Several twin studies of disc degeneration exist, most of them conducted by Battié et al (67). The studies by Battié et al are based on the "Twin Spine Study" and in a review from 2009 they summarized their findings (66).…”

Section: Pathophysiologymentioning

confidence: 99%

Lumbar disc herniation surgery in adolescents and young adults

Lagerbäck

Möller

Gerdhem

2019

The Bone & Joint Journal

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AimsThe purpose of this study was to investigate the risk of additional surgery in the lumbar spine and to describe long-term changes in patient-reported outcomes after surgery for lumbar disc herniation in adolescents and young adults.Patients and MethodsWe conducted a retrospective study design on prospectively collected data from a national quality register. The 4537 patients were divided into two groups: adolescents (≤ 18 years old, n = 151) and young adults (19 to 39 years old, n = 4386). The risk of additional lumbar spine surgery was surveyed for a mean of 11.4 years (6.0 to 19.3) in all 4537 patients. Long-term patient-reported outcomes were available at a mean of 7.2 years (5.0 to 10.0) in up to 2716 patients and included satisfaction, global assessment for leg and back pain, Oswestry Disability Index, visual analogue scale for leg and back pain, EuroQol five-dimension questionnaire (EQ-5D), and 36-Item Short-Form Health Survey (SF-36) Mental Component Summary and Physical Component Summary scores. Statistical analyses were performed with Cox proportional hazard regression, chi-squared test, McNemar’s test, Welch–Satterthwaite t-test, and Wilcoxon’s signed-rank test.ResultsAny type of additional lumbar spine surgery was seen in 796 patients (18%). Surgery for lumbar disc herniation accounted for more than half of the additional surgeries. The risk of any additional surgery was 0.9 (95% confidence interval (CI) 0.6 to 1.4) and the risk of additional lumbar disc herniation surgery was 1.0 (0.6 to 1.7) in adolescents compared with the young adult group. Both age groups improved their patient-reported outcome data after surgery (all p < 0.001). Changes between short- (mean 1.9 years (1.0 to 2.0)) and long-term follow-up (mean 7.2 years (5.0 to 10.0)) were small.ConclusionThe risk of any additional lumbar spine surgery and additional lumbar disc herniation surgery was similar in adolescents and young adults. All patient-reported outcomes improved from preoperative to the short-term follow-up, while no likely clinically important differences between the short- and long-term follow-up were seen within both groups. Cite this article: Bone Joint J 2019;101-B:1534–1541

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“…A number of excellent reviews have been published focussing largely on the extensive candidate gene literature [ 25 •, 26 •]. The genetic variants and studies which will be discussed have been selected to highlight findings reported in the past 5 years with a particular focus on those found associated using agnostic methods.…”

Section: Structure and Function Of Intervertebral Discmentioning

confidence: 99%

Intervertebral Disc Biology: Genetic Basis of Disc Degeneration

et al. 2018

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Purpose of ReviewThis review aims to highlight recent advances in understanding the genetic basis of intervertebral disc degeneration (IDD).Recent FindingsIt 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.SummaryA 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.

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Genetic background of degenerative disc disease in the lumbar spine

Cited by 30 publications

References 116 publications

Pathomechanism of intervertebral disc degeneration

Pathomechanism of intervertebral disc degeneration

Lumbar disc herniation surgery in adolescents and young adults

Intervertebral Disc Biology: Genetic Basis of Disc Degeneration

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