Associations of vitamin D receptor gene polymorphisms FokI and BsmI with susceptibility to rheumatoid arthritis and Behçet's disease in Tunisians

Karray, Emna; Dhifallah, Imen Ben; Abdelghani, Kawther Ben; Ghorbel, I. Ben; Khanfir, M.; Houman, H.; Hamzaoui, Kamel; Zakraoui, L.

doi:10.1016/j.jbspin.2011.06.003

Cited by 72 publications

(40 citation statements)

References 32 publications

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“…Also, certain VDR gene polymorphisms were identified to be associated with a lower BMD and the susceptibility of osteoporosis and rheumatoid arthritis (RA) 7 9. Karray et al 31 reported that the VDR F allele was associated with RA in Tunisians. Wang et al 32 reported that VDR FokI polymorphism was associated with BMD in postmenopausal Asian women.…”

Section: Discussionmentioning

confidence: 99%

Vitamin D receptor gene polymorphisms and the risk of rickets among Asians: a meta-analysis

Mao

Huang

2013

Arch Dis Child

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Section: Discussionmentioning

confidence: 99%

Vitamin D receptor gene polymorphisms and the risk of rickets among Asians: a meta-analysis

Mao

Huang

2013

Arch Dis Child

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“…Por otra parte, estudios como el realizado en Túnez, dirigido por Karray EF, que buscaba encontrar la relación entre polimorfismos en el VDR, la artritis reumatoide y la enfermedad de Behcet, demostró que aquellos como Fok l presentan una asociación estadísticamente significativa con el desarrollo de artritis reumatoide, y en el grupo de pacientes con enfermedad de Behcet, Fok l se asoció a manifestaciones vasculares 67 .…”

Section: Polimorfismos Genéticos Asociados a Hipovitaminosis D Y Cierunclassified

Hipovitaminosis D: una visión desde la clínica y la biología molecular

Gallego-González

Mejía-Mesa

Martínez-Sánchez

et al. 2017

revmed

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ResumenLa vitamina D es una hormona que participa en gran cantidad de procesos fisiológicos y bioquímicos dentro del organismo humano, tales como la absorción de calcio y fosfato a nivel intestinal, regulación de la calcemia y mineralización ósea; además, tiene efectos sobre el ciclo celular, proliferación, diferenciación, señalización, apoptosis y producción de varias moléculas en diferentes células y tejidos, lo que explica la relación de sus bajos niveles con el desarrollo de múltiples patologías. En los últimos años, se ha reportado una elevada prevalencia de hipovitaminosis D a nivel mundial, que oscila entre el 50 y 92% según la población estudiada, producto de la deficiente exposición a la luz solar, escasa ingesta dietética, poco uso de suplementos vitamínicos, entre otros factores asociados. A su vez, se ha encontrado que la deficiencia de vitamina D es causada por algunos polimorfismos genéticos que afectan su metabolismo y conllevan al desarrollo de varias enfermedades. Debido a la importancia clínica de la vitamina D, se realizó esta revisión de la literatura por medio de la búsqueda de artículos originales, revisiones sistemáticas y narrativas en las bases de datos Pubmed y ScienceDirect y en el buscador Google Scholar. Se seleccionaron en total 71 artículos, a partir de los cuales se busca describir en el presente texto algunos de los aspectos relacionados con la fisiología, epidemiología, clínica y etiología de la hipovitaminosis D. Vitamin D deficiency: a view from clinical features and molecular biology AbstRActVitamin D is a hormone involved in many physiological and biochemical processes within the human, such as the absorption of calcium and phosphate in the intestine, regulation of blood calcium and bone mineralization; it also has effects on the cell cycle, proliferation, differentiation, signaling, apoptosis and production of various molecules in different cells and tissues, which explains the relationship between low levels of vitamin D and the development of many diseases. In recent years, there has been reported a high prevalence of vitamin D deficiency worldwide, ranging between 50 and 92% depending on the population studied, the result of poor exposure to sunlight, poor dietary intake, little use of vitamin supplements, among other associated factors. Hence, it has been found that vitamin D deficiency is caused by some genetic polymorphisms that affect their metabolism and lead to the development of various diseases. Because of the clinical importance of vitamin D, this review of the literature was conducted by the search for original articles, systematic reviews and narrative articles in PubMed, ScienceDirect and Google Scholar reviews. They were selected in total 71 articles, from which we seek to describe here some of the aspects of physiology, epidemiology, clinical and etiology of vitamin D deficiency. mÉD.uIs. 2017;30(1):45-56.

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“…The FokI F allele (F/F genotype) of a VDR gene has been demonstrated to be significantly associated with the risk of developing Bechet's disease, in particular with its typical vascular manifestations (121).…”

Section: N Vitamin D and Behçet's Diseasementioning

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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Associations of vitamin D receptor gene polymorphisms FokI and BsmI with susceptibility to rheumatoid arthritis and Behçet's disease in Tunisians

Cited by 72 publications

References 32 publications

Vitamin D receptor gene polymorphisms and the risk of rickets among Asians: a meta-analysis

Vitamin D receptor gene polymorphisms and the risk of rickets among Asians: a meta-analysis

Hipovitaminosis D: una visión desde la clínica y la biología molecular

Vitamin D and rheumatic diseases

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