COL9A3 Gene Polymorphism and Obesity in Intervertebral Disc Degeneration of the Lumbar Spine: Evidence of Gene-Environment Interaction

Solovieva, Svetlana; Lohiniva, Jaana; Leino-Arjas, Päivi; Raininko, Raili; Luoma, Katariina; Ala‐Kokko, Leena; Riihimäki, Hilkka

doi:10.1097/00007632-200212010-00008

Cited by 112 publications

(70 citation statements)

References 16 publications

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“…Manifestations of structural failure such as radial fissures, disc prolapse, endplate damage, internal or external collapse of the anulus, and disc narrowing can themselves be defined in pragmatic terms as is usual in the epidemiologic and radiologic literature. 65,113,114 Cell-mediated responses to structural failure can be regarded as the "final common pathway" of the disease process.…”

Section: Interpretation: What Is Disc Degeneration?mentioning

confidence: 99%

What is Intervertebral Disc Degeneration, and What Causes It?

Adams¹,

Roughley²

2006

Spine

1,457

1,288

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Section: Interpretation: What Is Disc Degeneration?mentioning

confidence: 99%

What is Intervertebral Disc Degeneration, and What Causes It?

Adams¹,

Roughley²

2006

Spine

1,457

1,288

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“…This scale resulted in a classification of degenerative disorders as non-existent, mild, moderate, and severe, respectively. In the 284 controls, 80.82% (230) were healthy with no disease, 12.68% (36) were diagnosed as having normal cardiovascular diseases and 6.50% (18) were diagnosed as having normal digestive system diseases, which were confirmed to be unconnected with intervertebral disease. The study was approved by the City Ethics Committee.…”

Section: Subjectsmentioning

confidence: 99%

“…Subsequent research revealed that a number of genes are associated with disc degeneration in human beings, including an aggrecan gene with shorter numbers of tandem repeat lengths; mutation genes coding for collagen IX (COL 9 A2 and COL 9 A3), and the matrix metalloproteinase-3 gene [14][15][16][17] . Solovieva 18) presented evidence suggesting that the effect of obesity on lumbar disc degeneration is modified by COL9A3 gene polymorphisms in Finnish men. These findings indicated that genetic risk factors may interact with environmental factors in exaggerating the development of disc degeneration.…”

mentioning

confidence: 99%

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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“…The aetiology of this disorder is unknown but may be due to the relative avascularity of the tissue, mineralization of or trauma to the cartilage endplate, mechanical factors, vertebral body microfracture and loss of notochordal cells. Whatever the exact pathway, disc degeneration is certainly associated with aging and has a strong genetic component [1,10,96,109,115,120]. The back pain that can develop either in association with or as a result of this disease has a lifetime prevalence of 80%.…”

Section: Introductionmentioning

confidence: 99%

Tissue engineering and the intervertebral disc: the challenges

2008

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Disc degeneration is a common disorder. Although the back pain that can develop in association with this is rarely life-threatening, the annual cost in terms of morbidity, lost productivity, medical expenses and workers' compensation benefits is significant. Surgical intervention as practised currently is directed towards removing the damaged or altered tissue. Development of new treatment modalities is critical as there is a growing consensus that the strategies used currently for symptomatic degenerative disc disease may not be effective. Accordingly, there is a need to develop an entirely new way to treat this disorder; regenerative medicine and tissue engineering approaches appear particularly promising in this regard. This paper reviews some of the challenges that currently are limiting the clinical application of this approach to the treatment of disc degeneration.

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COL9A3 Gene Polymorphism and Obesity in Intervertebral Disc Degeneration of the Lumbar Spine: Evidence of Gene-Environment Interaction

Abstract: The effect of obesity on lumbar disc degeneration seems to be modified by the collagen IX gene polymorphism, so that people who carry the Trp3 allele are at increased risk if they are persistently obese.

Cited by 112 publications

References 16 publications

What is Intervertebral Disc Degeneration, and What Causes It?

What is Intervertebral Disc Degeneration, and What Causes It?

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

Tissue engineering and the intervertebral disc: the challenges

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