Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women

Urano, Tomohiko; Narusawa, Kenichiro; Shiraki, Masataka; Sasaki, Noriko; Hosoi, Takayuki; Ouchi, Yasuyoshi; Nakamura, Toshio; Inoue, Satoshi

doi:10.1007/s00586-010-1598-0

Cited by 53 publications

(41 citation statements)

References 30 publications

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“…Individuals with the 'TT' genotype demonstrated greater osteophyte formation and disc space narrowing in comparison with 'CC' or 'CT' genotypes. Therefore, 'T' is the risk allele for this SNP (Urano et al, 2011). However, no significant association has been reported for other investigated SNPs.…”

Section: Hyaluronan and Proteoglycan-like Protein 1 (Hpln1)mentioning

confidence: 94%

“…A previous animal study on mice demonstrated deferred bone formation and cartilage maturation in HPLN1 deficiency, which led to developing short limbs and craniofacial anomalies (Urano et al, 2011).…”

Section: Hyaluronan and Proteoglycan-like Protein 1 (Hpln1)mentioning

confidence: 99%

“…Biochemical changes that occur in degenerated discs include loss of proteoglycans, aggrecan degradation, and loss of glycosaminoglycans (GAG), resulting in decreased osmotic pressure within the disc matrix and loss of hydration, alteration of collagen types and distribution, increase in fibronectin, and production of higher levels of degradative enzymes such as matrix metalloproteinases (MMPs), cathepsins, and aggrecanases (Urban and Roberts, 2003). The morphological characteristics of IVDD include the formation of vertebral osteophytes and the development of endplate sclerosis and IVD space narrowing (Urano et al, 2010(Urano et al, , 2011.…”

Section: Introductionmentioning

confidence: 99%

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Genetic aspects of intervertebral disc degeneration

Hanaei

Abdollahzade

Khoshnevisan

et al. 2015

Reviews in the Neurosciences

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AbstractIntervertebral disc degeneration (IVDD) is one of the common causes of low back pain. Similar to many other multifactorial diseases, it is affected by environmental and genetic factors. Although not completely understood, genetic factors include a wide spectrum of variations, such as single nucleotide polymorphisms, which could play a significant role in the etiology of this disease. Besides, the interactions with environmental factors could make the role of genetic factors more complicated. Genetic variations in disc components could participate in developing degenerative disc disease through altering the normal homeostasis of discs. Gene polymorphisms in disc proteins (collagens I, II, III, IX, and XI), proteoglycans (aggrecan), cytokines (interleukins I, VI, and X), enzymes (matrix metalloproteinases II, III, and IX), and vitamin D receptor seem to play considerable roles in the pathology of this disease. There are also many other investigated genes that could somehow take part in the process. However, it seems that more studies are needed to clarify the exact role of genetics in IVDD.

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Section: Hyaluronan and Proteoglycan-like Protein 1 (Hpln1)mentioning

confidence: 94%

Section: Hyaluronan and Proteoglycan-like Protein 1 (Hpln1)mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Genetic aspects of intervertebral disc degeneration

Hanaei

Abdollahzade

Khoshnevisan

et al. 2015

Reviews in the Neurosciences

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“…Other genes (ADH2 49) , GCH1 68) , COMT 67,78) , HAPLN1 70) , Caspase 9 71,84) , GDF5 72) , FAS 73) , FASL 73) , BCL-2 77) , DR4 79) , PARK 2 80) , VEGF 87) , eNOS 87) , HIF-1α 88) , ADAMTS4 105) , ADAMTS5 92) , ADIPOQ 95) , and TRAIL 100,101) ) There are several genes whose genetic polymorphisms are associated with LDDs. The information is very important and interesting.…”

Section: Kiaa1217 (Skt)unclassified

Genetic background of degenerative disc disease in the lumbar spine

Kawaguchi

2018

Spine Surg Relat Res

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Abstract:This is a review paper on the topic of genetic background of degenerative disc diseases in the lumbar spine. Lumbar disc diseases (LDDs), such as lumbar disc degeneration and lumbar disc herniation, are the main cause of low back pain. There are a lot of studies that tried to identify the causes of LDDs. The causes have been categorized into environmental factors and genetic factors. Recent studies revealed that LDDs are mainly caused by genetic factors. Numerous studies have been carried out using the genetic approach for LDDs. The history of these studies is divided into three periods: (1) era of epidemiological research using familial background and twins, (2) era of genomic research using DNA polymorphisms to identify susceptible genes for LDDs, and (3) era of functional research to determine how the genes cause LDDs. This review article was undertaken to present the history of genetic approach to LDDs and to discuss the current issues and future perspectives.

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“…Structural deterioration of the lumbar disc -influenced by genetic [26][27][28] and physiological factors -leads to lumbar misalignment in coronal and sagittal balance and consequently, to the loss of lumbar lordosis [29][30][31] (Table 4). This initiates a degenerative cascade of LSI also leading to LSS [32,33].…”

Section: A New Conceptual Model Of Compensation/decompensation In Lummentioning

confidence: 99%

A conceptual model of compensation/decompensation in lumbar segmental instability

Barz¹,

Melloh²,

Lord³

et al. 2014

Medical Hypotheses

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Lumbar spinal instability (LSI) is a common spinal disorder and can be associated with substantial disability. The concept of defining clinically relevant classifications of disease or 'target condition' is used in diagnostic research. Applying this concept to LSI we hypothesize that a set of clinical and radiological criteria can be developed to identify patients with this target condition who are at high risk of 'irreversible' decompensated LSI for whom surgery becomes the treatment of choice. In LSI, structural deterioration of the lumbar disc initiates a degenerative cascade of segmental instability. Over time, radiographic signs become visible: traction spurs, facet joint degeneration, misalignment, stenosis, olisthesis and de novo scoliosis. Ligaments, joint capsules, local and distant musculature are the functional elements of the lumbar motion segment. Influenced by non-functional factors, these functional elements allow a compensation of degeneration of the motion segment. Compensation may happen on each step of the degenerative cascade but cannot reverse it. However, compensation of LSI may lead to an alleviation or resolution of clinical symptoms. In return, the target condition of decompensation of LSI may cause the new occurrence of symptoms and pain. Functional compensation and decompensation are subject to numerous factors that can change which makes estimation of an individual's long-term prognosis difficult. Compensation and decompensation may influence radiographic signs of degeneration, e.g. the degree of misalignment and segmental angulation caused by LSI is influenced by the tonus of the local musculature. This conceptual model of compensation/decompensation may help solve the debate on functional and psychosocial factors that influence low back pain and to establish a new definition of non-specific low back pain. Individual differences of identical structural disorders could be explained by compensated or decompensated LSI leading to changes in clinical symptoms and pain. Future spine surgery will have to carefully define and measure functional aspects of LSI, e.g. to identify a point of no return where multidisciplinary interventions do not allow a re-compensation and surgery becomes the treatment of choice.

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Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women

Cited by 53 publications

References 30 publications

Genetic aspects of intervertebral disc degeneration

Genetic aspects of intervertebral disc degeneration

Genetic background of degenerative disc disease in the lumbar spine

A conceptual model of compensation/decompensation in lumbar segmental instability

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