Analysis of <i>FokI</i> Polymorphism of Vitamin D Receptor Gene in Intervertebral Disc Degeneration

Vieira, Luiz Ângelo; Marchi, Patricia Leme de; Santos, Aline Amaro dos; Christofolini, Denise Maria; Barbosa, Caio Parente; Fonseca, Fernando Luiz Affonso; Bianco, Bianca; Rodrigues, Luciano Miller Reis

doi:10.1089/gtmb.2014.0030

Cited by 32 publications

(37 citation statements)

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“…Vitamin D receptor 28,29,33,36,44,46,61,63,90,93,94,97,102,103,113) VDR has an important role in normal bone mineralization and bone remodeling. It has been reported that the polymorphism of VDR contributes to diseases, such as osteoporosis, osteoarthritis, and LDDs.…”

Section: Matrix Metalloproteinase-3 and Other Mmpsmentioning

confidence: 99%

“…It has been reported that the polymorphism of VDR contributes to diseases, such as osteoporosis, osteoarthritis, and LDDs. Numerous studies have focused on the relationship between the polymorphisms of VDR with or without other genes and LDDs 28,29,33,36,44,46,61,63,90,93,94,97,102,103) . All of the studies demonstrated that the t allele of VDR Taq I was associated with a high risk of LDDs.…”

Section: Matrix Metalloproteinase-3 and Other Mmpsmentioning

confidence: 99%

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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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Section: Matrix Metalloproteinase-3 and Other Mmpsmentioning

confidence: 99%

Section: Matrix Metalloproteinase-3 and Other Mmpsmentioning

confidence: 99%

Genetic background of degenerative disc disease in the lumbar spine

Kawaguchi

2018

Spine Surg Relat Res

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“…(189) Moreover, the recombinant human GDF-5 (rhGDF-5) enhances cell proliferation and matrix synthesis and accumulation by both bovine NP and AF cells. (190) Some epidemiologic studies highlighted that DD may be caused to a large degree by hereditary factors with apparently a relatively minor effects of environmental and behavioral risk factors (191)(192)(193)(194)(195), which indicated that genetic factors might play an important role in the pathogenesis of IDD.…”

Section: Lbp Pathophysiologymentioning

confidence: 99%

Intervertebral Disc Degeneration and Low Back Pain: Molecular Mechanisms and Stem Cell Therapy

2018

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BACKGROUND: Low back pain (LBP) mostly caused by disc degeneration, reflects to a tremendous of health care system and economy. More knowledge about these underlying pathologies will improve the opportunities that may represent critical therapeutic targets.CONTeNT: Basic research is advancing the understanding of the pathogenesis and management of LBP at the molecular and genetic levels. Cytokines such as matrix metalloproteinases, phospholipase A2, nitric oxide, and tumor necrosis factor-α are thought to contribute to the development of LBP. Mesenchymal stem cells (MSCs) transplant to cartilage-like cells and secrete extracellular matrix and encourage nucleus pulposus (NP) cell activity Abstract R E V I E W A R T I C L Einhibiting NP cell apoptosis, together with some chemical mediators such as cytokines and growth factors become a safe and effective new strategy for intervertebral disc degeneration (IDD) treatment and regeneration.SUMMARy: IDD occurs where there is a loss of homeostatic balance with a predominantly catabolic metabolic profile. A basic understanding of the molecular changes occurring in the degenerating disc is important for practicing clinicians to help them to inform patients to alter lifestyle choices, identify beneficial or harmful supplements, or offer new biologic, genetic, or stem cell therapies.

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“…Over the past two decades, various polymorphisms affecting the expression and function of VDRs in IVDD have been identified. These SNPs include FokI (rs2228570), TaqI (rs731236), and ApaI (rs7975232) (12, 20, 24, 44, 48, 49, 51, 61, 62). …”

Section: Gene Polymorphisms Associated With Ivddmentioning

confidence: 99%

“…The FokI polymorphism of VDR is a C to T substitution found in exon 2 (49). This SNP leads to altered protein size, and subsequently, altered function.…”

Section: Gene Polymorphisms Associated With Ivddmentioning

confidence: 99%

Genetic Alterations in Intervertebral Disc Disease

et al. 2016

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BackgroundIntervertebral disc degeneration (IVDD) is considered a multifactorial disease that is influenced by both environmental and genetic factors. The last two decades of research strongly demonstrate that genetic factors contribute about 75% of the IVDD etiology. Recent total genome sequencing studies have shed light on the various single-nucleotide polymorphisms (SNPs) that are associated with IVDD.AimThis review presents comprehensive and updated information about the diversity of genetic factors in the inflammatory, degradative, homeostatic, and structural systems involved in the IVDD. An organized collection of information is provided regarding genetic polymorphisms that have been identified to influence the risk of developing IVDD. Understanding the proteins and signaling systems involved in IVDD can lead to improved understanding and targeting of therapeutics.Materials and methodsAn electronic literature search was performed using the National Library of Medicine for publications using the keywords genetics of IVDD, lumbar disc degeneration, degenerative disc disease, polymorphisms, SNPs, and disc disease. The articles were then screened based on inclusion criteria that included topics that covered the correlation of SNPs with developing IVDD. Sixty-five articles were identified as containing relevant information. Articles were excluded if they investigated lower back pain or just disc herniation without an analysis of disc degeneration. This study focuses on the chronic degeneration of IVDs.ResultsVarious genes were identified to contain SNPs that influenced the risk of developing IVDD. Among these are genes contributing to structural proteins, such as COL1A1, COL9A3, COL9A3, COL11A1, and COL11A2, ACAN, and CHST3. Furthermore, various SNPs found in the vitamin-D receptor gene are also associated with IVDD. SNPs related to inflammatory cytokine imbalance are associated with IVDD, although some effects are limited by sex and certain populations. SNPs in genes that code for extracellular matrix-degrading enzymes, such as MMP-1, MMP-2, MMP-3, MMP-9, MMP-14, ADAMTS-4, and ADAMTS-5 are also associated with IVDD. Apoptosis-mediating genes, such as caspase 9 gene (CASP9), TRAIL, and death receptor 4 (DR4), as well as those for growth factors, such as growth differentiation factor 5 and VEGF, are identified to have polymorphisms that influence the risk of developing IVDD.ConclusionWithin the last 10 years, countless new SNPs have been identified in genes previously unknown to be associated with IVDD. Furthermore, the last decade has also revealed new SNPs identified in genes already known to be involved with increased risk of developing IVDD. Improved understanding of the numerous genetic variants behind various pathophysiological elements of IVDD could help advance personalized care and pharmacotherapeutic strategies for patients suffering from IVDD in the future.

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Analysis of FokI Polymorphism of Vitamin D Receptor Gene in Intervertebral Disc Degeneration

Abstract: The results showed a positive association between VDR FokI/T2C polymorphism and DD in Brazilian patients tested.

Cited by 32 publications

References 31 publications

Genetic background of degenerative disc disease in the lumbar spine

Genetic background of degenerative disc disease in the lumbar spine

Intervertebral Disc Degeneration and Low Back Pain: Molecular Mechanisms and Stem Cell Therapy

Genetic Alterations in Intervertebral Disc Disease

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