Cartilage Intermediate Layer Protein Gene is Associated with Lumbar Disc Degeneration in Male, but Not Female, Collegiate Athletes

Min, Seok-Ki; Nakazato, Koichi; Yamamoto, Yosuke; Gushiken, Koji; Fujimoto, Hideo; Fujishiro, Hitone; Kobayakawa, Yuri; Hiranuma, Kenji

doi:10.1177/0363546510376714

Cited by 28 publications

(42 citation statements)

References 18 publications

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“…Concurrently, blood vessels and nociceptive nerve fibers from the dorsal root ganglion (DRG) invade into the herniated disc tissues to cause LBP [63,64,65]. Notably, genetic polymorphisms in various genes have been investigated in association with IDD, including the vitamin D receptor [66,67]; aggrecan [68,69]; GDF-5 [34,35]; TIMP [66]; cartilage intermediate layer protein (CILP) [70,71]; MMP 1, 2, and 3 [72,73,74]; and others. Each of these mutant genes encodes a protein that has a role in the pathophysiology of disc degeneration.…”

Section: The Pathogenesis Of Iddmentioning

confidence: 99%

Growth and Differentiation Factor-5 Contributes to the Structural and Functional Maintenance of the Intervertebral Disc

Feng

Liu

Yang

et al. 2015

Cell Physiol Biochem

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Intervertebral disc degeneration (IDD) is a widely recognized contributor to low back pain (LBP). The Prevention or reversal of IDD is a potential treatment for LBP. Unfortunately, current treatments for IDD are aimed at relieving symptoms rather than regenerating disc structure or function. Recently, the injection of growth factors and mesenchymal stem cell (MSC) transplantation have been shown to be promising biological therapies for IDD. Growth factors stimulate the proliferation of and matrix synthesis by intervertebral disc (IVD) cells, leading to the regeneration of degenerative discs. Growth factors, hypoxia and co-culture with nucleus pulposus (NP) cells induce MSCs to differentiate toward an NP-like phenotype, which can increase the number of functional cells in the IVD or enhance the function of endogenous disc cells to facilitate IVD regeneration. Therefore, the emerging roles of growth factors in IVD regeneration have piqued the interest of researchers. Growth factors including transforming growth factor-β (TGF-β), fibroblast growth factor (FGF), insulin-like growth factor-1 (IGF-1) and growth and differentiation factor-5 (GDF-5), among others, have been demonstrated to enhance anabolism in IVD cells and to induce NP-like differentiation of MSCs. However, the injection of TGF, IGF and FGF into human IVDs may induce unwanted blood vessel ingrowth, which accelerates the process of IDD, the injection of GDF-5 may not have the same effect. This finding suggests that GDF-5 is a preferable growth factor for use in IDD treatment compared with TGF, IGF and FGF. The GDF-5 gene is one of the few growth factor genes that have been found to be associated with IDD thus far; moreover, the GDF-5 gene defects lead to collagen and proteoglycan abnormalities in discs in mice, suggesting that GDF-5 contributes to the structural and functional maintenance of the IVD. This review is focused on the functions of GDF-5 in the IVD and on the association between GDF-5 and a genetic predisposition to IDD. The effects of GDF-5 on IVD regeneration and on MSC differentiation are also discussed. GDF-5 plays a crucial role in the pathogenesis of IDD and is a promising therapeutic agent for IDD. Additionally, stem cell transplantation has been shown to be a promising biological therapy for IDD.

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Section: The Pathogenesis Of Iddmentioning

confidence: 99%

Growth and Differentiation Factor-5 Contributes to the Structural and Functional Maintenance of the Intervertebral Disc

Feng

Liu

Yang

et al. 2015

Cell Physiol Biochem

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“…The change in the SNP results in amino acid substitution Ile395 Thr. The effect of the same SNP was replicated in another Japanese group using male collegiate athletes 59,67,91) . The studies from Finland were controversial.…”

Section: Collagen I (Col1a1)mentioning

confidence: 86%

“…Cartilage intermediate layer protein 43,53,59,67,76,91) Cartilage intermediate layer protein (CILP) is found in the intermediate layer of cartilage. This is also found in the intervertebral disc.…”

Section: Collagen I (Col1a1)mentioning

confidence: 99%

“…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

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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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“…Cartilage intermediate-layer protein (CILP), located at chromosome 115q22, is a component of articular cartilage and IVD ECM, which is up-regulated in the setting of disc degeneration and may inhibit the production of aggrecan and collagen II proteins through interaction with transforming growth factor β (TGFβ; Kalichman and Hunter, 2008;Min et al, 2010).…”

Section: Cartilage Intermediate-layer Protein (Cilp)mentioning

confidence: 99%

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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Cartilage Intermediate Layer Protein Gene is Associated with Lumbar Disc Degeneration in Male, but Not Female, Collegiate Athletes

Abstract: The CILP SNP 1184T/C is a risk factor for male collegiate athletes. Information regarding the CILP gene polymorphism may be important for preventing and managing lumbar disc diseases, especially in male athletes.

Cited by 28 publications

References 18 publications

Growth and Differentiation Factor-5 Contributes to the Structural and Functional Maintenance of the Intervertebral Disc

Growth and Differentiation Factor-5 Contributes to the Structural and Functional Maintenance of the Intervertebral Disc

Genetic background of degenerative disc disease in the lumbar spine

Genetic aspects of intervertebral disc degeneration

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