Vitamin D receptor gene polymorphisms and osteoarthritis of the hand, hip, and knee: acase–control study in Japan

Huang, Jian; Ushiyama, Toshio; Inoue, Koji; Kawasaki, Taku; Hukuda, Sinsuke

doi:10.1093/rheumatology/39.1.79

Cited by 49 publications

(55 citation statements)

References 26 publications

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“…[21] However, in a study of sporadic prostate cancer in the Turkish population, [22] the VDR gene ApaI polymorphism was found to be associated with the disease. Although, VDR gene polymorphisms were discovered to be associated with hand OA in Finnish women [10] and with radiographic OA in Netherlands, [8] Huang et al [11] did not find any association between VDR gene polymorphisms and hand, hip or knee OA in a Japanese population. This finding is consistent with our results.…”

Section: Discussionmentioning

confidence: 99%

“…[8] Nonetheless, it is still uncertain whether genetic variants of the VDR gene (TaqI and ApaI polymorphisms) are involved in the development of OA. [9][10][11] Since gene pools, lifestyle, and geneenvironment interactions vary between populations, the risk should not be the same with respect to genotypes in every population. [12] The aim of the present study was to determine if the polymorphisms of the VDR gene, TaqI and ApaI, are involved in the development of osteoarthritis in the Turkish population.…”

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An Investigation Into the Relationship Between Taq1 and Apa1 Polymorphisms of the Vitamin D Receptor Gene and the Development of Osteoarthritis

et al. 2011

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Amaç: Bu çalışmada vitamin D reseptör (VDR) geniObjectives: This study aims to determine whether Vitamin D receptor (VDR) gene TaqI and ApaI polymorphisms are involved in the development of osteoarthritis in the Turkish population. Patients and methods:In this study, genomic DNA was isolated from 140 subjects (95 patients with osteoarthritis and 45 healthy controls). The DNA was amplified with specific primers by polymerase chain reaction and the restriction fragment length polymorphism (RFLP) technique was used to analyze the VDR gene TaqI and ApaI polymorphism genotypes. Polymerase chain reaction-RFLP products were assessed with and ultraviolet transilluminator by being exposed to agarose gel electrophoresis. Results:In terms of the genotype distributions and the allele frequencies of VDR gene TaqI and ApaI polymorphisms, there was no statistically significant difference (p>0.05) between the osteoarthritis patients and the controls. In addition, there was also no statistically significant difference between the genotypes and clinical characteristics of the patients or controls. Conclusion:In conclusion, the results of the present study suggest that VDR gene TaqI and ApaI polymorphisms are not involved in the development of osteoarthritis in the studied Turkish population.

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Section: Discussionmentioning

confidence: 99%

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An Investigation Into the Relationship Between Taq1 and Apa1 Polymorphisms of the Vitamin D Receptor Gene and the Development of Osteoarthritis

et al. 2011

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“…5) (140). The main studies on the potential role of polymorphisms of VDRs in patients affected by osteoarthritis have yielded conflicting results (141)(142)(143)(144)(145). Some studies have explored the correlation between vitamin D levels and the severity or progression of the disease.…”

Section: N Vitamin D and Osteoarthritismentioning

confidence: 99%

Vitamin D and rheumatic diseases

et al. 2014

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n INTRODUCTION B esides the well-known effects of vitamin D on the skeleton and on phosphorus and calcium metabolism, unsurprisingly it has also shown to have some extra-skeletal effects and in particular in numerous metabolic, degenerative, inflammatory and autoimmune rheumatic diseases. This is justified by at least four main aspects: 1) the presence of vitamin D receptors in various tissues other than bone cells, such as cartilages, sinoviocytes and muscle cells; 2) the role of vitamin D in the control of the transcription of genes involved in rheumatic diseases; 3) the evidence that vitamin D has multiple endocrine effects not only on calcium homeostasis; 4) the activation of vitamin D not only in the kidney, but also in monocyte-macrophage and lymphocytic cell lines and some epithelial cells.The aim of this review is to summarize the latest evidence concerning the relationship between vitamin D and the most relevant rheumatic diseases, besides skeletal metabolic diseases. n VITAMIN D AND OSTEOPOROSISIt has long been known that vitamin D plays an important role in the regulation of phosphorus, calcium and skeletal metabolism. Hence vitamin D deficiency may cause rickets in children and osteomalacia in adults and can contribute to the pathogenesis of osteoporosis. Over the last year new evidence has emerged of the relationship between vitamin D deficiency and the risk of osteoporosis and fractures (1-4). This is of particular interest, since fractures place a huge burden on healthcare services (5).A recent meta-analysis has demonstrated that patients with the bb-genotype of vitamin D receptor gene BsmI polymorphism SUMMARY Vitamin D has some well-known effects on calcium, phosphate and bone metabolism, but it has recently shown to have many other effects, which may potentially be relevant to patients with extra-skeletal rheumatic diseases. Such effects may be justified by: 1) the presence of the vitamin D receptors also on extra-osseous cells, such as cartilage cells, sinoviocytes, muscle cells; 2) the proven role of vitamin D in the control of the transcription of genes involved in rheumatic diseases; 3) the evidence that vitamin D has multiple endocrine effects not only on calcium homeostasis; 4) the activation of vitamin D not only in the kidneys, but also in monocyte-macrophage and lymphocytic cell lines and in some epithelial cells with additional intracrine and paracrine effects. Vitamin D deficiency has been reported in numerous metabolic, degenerative, inflammatory and autoimmune rheumatic diseases. In some cases this association was also related to the risk of developing a rheumatic disease or the degree of disease activity. However there is no conclusive evidence of the efficacy of a preventive or therapeutic strategy based on vitamin D supplementation in extra-skeletal rheumatic diseases. This review aims to provide an overview of the latest evidence concerning the relationship between vitamin D and the most relevant rheumatic diseases.

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“…These genes have been studied in OA, but VDR has received the most attention, and first reports have shown significant associations with an increased risk in the presence of different polymorphisms (Ken et al, 1997;Uitterlinden et al, 1997;Solovieva et al, 2006;Valdes et al, 2006); however, this has not always been confirmed (Aerssens et al, 1998;Baldwin et al, 2002;Huang et al, 2000;Loughlin et al, 2000b). A meta-analysis on the most frequently studied VDR polymorphisms (TaqI, BsmI, and ApaI) in OA analyzed a total of 10 studies of persons of Asian or European origin involving a total of 1,591 patients with OA and 1,781 controls.…”

Section: Modulation Of Osteocyte or Chondrocyte Differentiationmentioning

confidence: 99%

The Genetics of Osteoarthritis

Miranda‐Duarte¹

2012

Principles of Osteoarthritis- Its Definition, Character, Derivation and Modality-Related Recognition

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Vitamin D receptor gene polymorphisms and osteoarthritis of the hand, hip, and knee: acase–control study in Japan

Abstract: The relative importance of VDR gene polymorphism in the development of OA may vary betweenethnic groups.

Cited by 49 publications

References 26 publications

An Investigation Into the Relationship Between Taq1 and Apa1 Polymorphisms of the Vitamin D Receptor Gene and the Development of Osteoarthritis

An Investigation Into the Relationship Between Taq1 and Apa1 Polymorphisms of the Vitamin D Receptor Gene and the Development of Osteoarthritis

Vitamin D and rheumatic diseases

The Genetics of Osteoarthritis

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