Relationship between vitamin D receptor gene (VDR) polymorphisms, vitamin D status, osteoarthritis and intervertebral disc degeneration

Colombini, Alessandra; Cauci, Sabina; Lombardi, Giovanni; Lanteri, Patrizia; Croiset, Samantha Jennifer; Brayda-Bruno, Marco; Banfi, Giuseppe

doi:10.1016/j.jsbmb.2013.03.001

Cited by 46 publications

(42 citation statements)

References 101 publications

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“…The association between the presence of polymorphisms in the VDR and lumbar spine pathologies is a debated topic [24]. In our study, considering the very broad category of patients with lumbar spine disorders, the FokI polymorphism was not associated with disease risk.…”

Section: Discussioncontrasting

confidence: 46%

FokI Polymorphism in the Vitamin D Receptor Gene (VDR) and Its Association with Lumbar Spine Pathologies in the Italian Population: A Case-Control Study

et al. 2014

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Alterations in vitamin D homeostasis, mainly involving its nuclear receptor (VDR), could have a role in the pathophysiology of the spine. The association between VDR polymorphisms and spine disorders has been analyzed in different ethnic groups, focusing on the functional FokI polymorphism. However, so far, inconsistent findings were reported. The aims of this study were to evaluate, in the Italian white population, the VDR FokI polymorphism frequencies distribution in subjects with clearly defined lumbar spinal pathologies compared to asymptomatic controls and to analyze the interplay of genetic and conventional risk factors. Using a case-control design, 267 patients with spinal disorders and 220 asymptomatic controls were enrolled, evaluating their exposition to putative risk factors. Patients’ clinical assessment was performed by Magnetic Resonance Imaging. FokI polymorphism (rs2228570) was detected by PCR-RFLP. Genotypes were designated by a lowercase letter (f allele, T nucleotide) for the presence of the restriction site and by a capital letter (F allele, C nucleotide) for its absence. Family history, higher age and BMI, exposure to vibration, physical job demand, smoking habit and lower practice of leisure physical activity were associated with spinal disorders. The FF genotype and F allele represented approximately 2-fold risk factors to develop discopathies and/or osteochondrosis concomitant with disc herniation, while f allele was protective. In conclusion, the link we observed between VDR FokI variants and specific lumbar spine pathologies suggests that spinal tissue degeneration is influenced by the genetic background. Future studies should evaluate the signaling pathways involving alterations in VDR and influencing the development and/or progression of spine disorders.

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Section: Discussioncontrasting

confidence: 46%

FokI Polymorphism in the Vitamin D Receptor Gene (VDR) and Its Association with Lumbar Spine Pathologies in the Italian Population: A Case-Control Study

et al. 2014

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“…Genetic variants of VDR may modulate its actions, with FokI, BsmI, ApaI, and TaqI being the most studied single-nucleotide polymorphisms (SNPs) 26-28 . VDR -FokI polymorphism is a functional SNP that extends lengths of the receptor protein from 424 to 427 amino acid residues.…”

Section: Introductionmentioning

confidence: 99%

“…Instead, BsmI, ApaI, and TaqI polymorphisms are reported to be in linkage disequilibrium to a variable extent; thus, combined genotypes including two or three of these polymorphisms were investigated in literature 26,28,29 . Some evidence suggested that genotypes FF, BB, tt, and the combined genotype BBAAtt may be associated with increased expression of VDR, which in turn regulates actions of vitamin D 26-28 . Roles of VDR polymorphisms in melanoma were evaluated in some recent studies and meta-analyses 30-37 .…”

Section: Introductionmentioning

confidence: 99%

Immunohistochemical evaluation of vitamin D receptor (VDR) expression in cutaneous melanoma tissues and four VDR gene polymorphisms

Marra

Stinco

Buligan

et al. 2017

Cancer Biology & Medicine

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Objective: Vitamin D receptor (VDR) mediates vitamin D activity. We examined whether VDR expression in excised melanoma tissues is associated with VDR gene (VDR) polymorphisms. Methods: We evaluated VDR protein expression (by monoclonal antibody immunostaining), melanoma characteristics, and carriage of VDR-FokI-rs2228570 (C>T),VDR-BsmI-rs1544410 (G>A),VDR-ApaI-rs7975232 (T>G), andVDR-TaqI-rs731236 (T>C) polymorphisms (by restriction fragment length polymorphism). Absence or presence of restriction site was denoted by a capital or lower letter, respectively: " F” and " f” for FokI, " B” and " b” for BsmI, " A” and " a” for ApaI, and " T” and " t” for TaqI endonuclease. Seventy-four Italian cutaneous primary melanomas (52.1±12.7 years old) were studied; 51.4% were stage I, 21.6% stage II, 13.5% stage III, and 13.5% stage IV melanomas. VDR expression was categorized as follows: 100% positivevs. <100%; over the median 20% (high VDR expression) vs. ≤20% (low VDR expression); absence vs. presence of VDR-expressing cells. Results: Stage I melanomas, Breslow thickness of <1.00 mm, level II Clark invasion, Aa heterozygous genotype, and AaTT combined genotype were more frequent in melanomas with high vs. low VDR expression. Combined genotypes BbAA, bbAa, AATt, BbAATt, and bbAaTT were more frequent in 100% vs. <100% VDR-expressing cells. Combined genotype AATT was more frequent in melanomas lacking VDR expression (odds ratio=14.5; P=0.025). VDR expression was not associated with metastasis, ulceration, mitosis >1, regression, tumor-infiltrating lymphocytes, tumoral infiltration of vascular tissues, additional skin and non-skin cancers, and melanoma familiarity. Conclusions: We highlighted that VDR polymorphisms can affect VDR expression in excised melanoma cells. Low VDR expression in AATT carriers is a new finding that merits further study. VDR expression possibly poses implications for vitamin D supplementation against melanoma. VDR expression and VDR genotype may become precise medicinal tools for melanoma in the future.

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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%

“…Recently, Columbini et al wrote a review regarding the relationship between VDR polymorphisms and osteoarthritis and intervertebral disc degeneration in 2013 113) . They checked the studies from 1997 to 2012 and found 16 reports were available for analysis.…”

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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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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Relationship between vitamin D receptor gene (VDR) polymorphisms, vitamin D status, osteoarthritis and intervertebral disc degeneration

Cited by 46 publications

References 101 publications

FokI Polymorphism in the Vitamin D Receptor Gene (VDR) and Its Association with Lumbar Spine Pathologies in the Italian Population: A Case-Control Study

FokI Polymorphism in the Vitamin D Receptor Gene (VDR) and Its Association with Lumbar Spine Pathologies in the Italian Population: A Case-Control Study

Immunohistochemical evaluation of vitamin D receptor (VDR) expression in cutaneous melanoma tissues and four VDR gene polymorphisms

Genetic background of degenerative disc disease in the lumbar spine

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