Familial Predisposition for Degenerative Disc Disease

Simmons, Edward D.; Guntupalli, Madhuri; Kowalski, Joseph M.; Braun, Felix; Seidel, Thomas

doi:10.1097/00007632-199607010-00007

Cited by 72 publications

(29 citation statements)

References 6 publications

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“…Other relevant studies have supported the idea that degenerative disc disorders may be genetically determined [9][10][11][12] . The first gene mutations associated with intervertebral disc degeneration in humans were reported in 1998 13) .…”

mentioning

confidence: 86%

Matrix Metalloproteinase‐3 and Vitamin D Receptor Genetic Polymorphisms, and Their Interactions with Occupational Exposure in Lumbar Disc Degeneration

Yuan

Ying

Liang

et al. 2010

Journal of Occupational Health

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Objectives: To investigate the occupational and genetic risk factors inducing lumbar disc degeneration in a Chinese population, and to explore their synergistic interactions. Methods: A case-control study involving 178 low back pain patients with lumbar disc degeneration and 284 controls was carried out. Five types of work-related factors were investigated using questionnaires. Polymerase chain reaction and restriction fragments length polymorphism was used to detect the polymorphisms of MMP-3 (matrix metalloproteinase-3)(rs731236), VDR-Taq (vitamin D receptor-Taq) and VDR-Apa (vitamin D receptor-Apa)(rs35068180). Rothman's synergy index was used to measure the synergistic interactions between gene polymorphisms and occupational risk factors. Results: Family history of lumbar disc diseases, back injury history, whole-body vibration, bending/twisting, heavy physical workload, age, mutation alleles 5A of MMP-3 and A of VDR-Apa were significantly associated with lumbar disc degeneration (OR=12. 70, 11.79, 8.96, 5.46, 1.05, 1.96 and 1.70, respectively, p<0.05). Synergistic interactions existed between the mutation allele 5A of MMP-3 and wholebody vibration exposure, the mutation allele 5A of MMP-3 and bending/twisting, and the mutation allele A of VDR-Apa and bending/twisting (SI=13.27, 2.91, 2.35, respectively, p<0.05). Conclusions: The results of this study suggest that gene-occupation interaction might play a certain role in exaggerating lumbar disc degeneration. There is a possibility that subjects who carry mutation alleles 5A of MMP-3 and/or A of VDRApa are more vulnerable to lumbar disc degeneration when they are exposed to whole-body vibration and/or bending/twisting under ergonomic loads. It is estimated that 15% to 20% of adults have back pain during a single year, and 50% to 80% experience at least one episode of back pain during their lifetime 1) . Jin 2) reported that the incidence of low-back pain (LBP) was as high as 50% in an investigation of one population of Chinese workers. Lumbar disc degeneration is considered to be a primary cause of LBP 3,4) . The pathogenesis of lumbar disc degeneration includes radial fissures, rim tears in the annulus, and loss of water content in the nucleus pulpous and annulus. These changes are suspected of underlying many back pain symptoms.The etiology of lumbar disc degeneration is complex, and recent research on the causes of disc degeneration have shed light upon a better understanding of the risk factors contributing to disc degeneration. Magora 5) suggested that occupational factors contributing to the acceleration of spinal degeneration included heavy physical loads, manual materials handling consisting of lifting, bending and twisting, prolonged sitting, sustained non-neutral work postures, and vehicle driving. Videman 6) confirmed that occupational exposures are viewed as the primary source of the mechanical factors

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confidence: 86%

Matrix Metalloproteinase‐3 and Vitamin D Receptor Genetic Polymorphisms, and Their Interactions with Occupational Exposure in Lumbar Disc Degeneration

Yuan

Ying

Liang

et al. 2010

Journal of Occupational Health

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“…Biochemical differences in the composition of a disc might explain a familial predisposition to disc degeneration in general [13]. Other genetically influenced factors may be body habitus and physical characteristics [13], whereas non-genetically influenced and therefore confounding risk factors in this clinical report may be smoking [8] (patient 1) and performing a physically demanding job [2] (patient 1 and 2), as these are risk factors at least in lumbar disc herniation.…”

Section: Discussionmentioning

confidence: 82%

“…Other genetically influenced factors may be body habitus and physical characteristics [13], whereas non-genetically influenced and therefore confounding risk factors in this clinical report may be smoking [8] (patient 1) and performing a physically demanding job [2] (patient 1 and 2), as these are risk factors at least in lumbar disc herniation. Finally, we cannot exclude the possibility that the occurrence of a symptomatic thoracic disc herniation at the exact same level and early age in these brothers was merely coincidental, given the high prevalence (37%) of thoracic disc herniations in asymptomatic individuals [21].…”

Section: Discussionmentioning

confidence: 90%

“…On the other hand, the first patient shows evidence of Scheuermann's disease, and therefore his disc herniation may have been related to this, whereas the second did not. A genetic factor has been implicated in the etiopathogenesis of cervical and lumbar disc degeneration [12,13,18] as well as thoracic disc degeneration [16]. Such disc degeneration may result in a tear of the annulus fibrosus and an extrusion of the nucleus pulposus into the spinal canal, thus producing a disc herniation [10].…”

Section: Discussionmentioning

confidence: 99%

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Two brothers with a symptomatic thoracic disc herniation at T11–T12: clinical report

et al. 2009

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“…Several case-control studies 19,20 have described increased selfreporting of a family history of intervertebral disc disease (45% to 47%) among patients requiring surgery for disc herniations compared with controls (<33%). In a similar study, Matsui et al 8 reported that disc herniations in patients with a positive family history were more severe than those in controls (p < 0.03).…”

mentioning

confidence: 99%

Evidence for an Inherited Predisposition to Lumbar Disc Disease

Patel

Spiker

Daubs

et al. 2011

Journal of Bone and Joint Surgery

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Familial Predisposition for Degenerative Disc Disease

Abstract: The results indicate that a familial predisposition to degenerative disc disease can exist along with other risk factors.

Cited by 72 publications

References 6 publications

Matrix Metalloproteinase‐3 and Vitamin D Receptor Genetic Polymorphisms, and Their Interactions with Occupational Exposure in Lumbar Disc Degeneration

Matrix Metalloproteinase‐3 and Vitamin D Receptor Genetic Polymorphisms, and Their Interactions with Occupational Exposure in Lumbar Disc Degeneration

Two brothers with a symptomatic thoracic disc herniation at T11–T12: clinical report

Evidence for an Inherited Predisposition to Lumbar Disc Disease

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