Vitamin D receptor (<i>VDR</i>) gene polymorphisms and susceptibility to systemic lupus erythematosus clinical manifestations

Silva, J de Azevêdo; Fernandes, Karoline; Pancotto, JA Trés; Fragoso, Thiago Sotero; Donadi, Eduardo Antônio; Crovella, Sérgio; Sandrin-Garcia, Paula

doi:10.1177/0961203313500549

Cited by 28 publications

(18 citation statements)

References 41 publications

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“…A strong association with arthritis and Vitamin D Receptor (VDR) polymorphism was identified in the study conducted by de Azevêdo Silva and colleagues in 2013 [ 50 ]. Through the Vitamin D Receptor (VDR), Vitamin D exerts an immune-modulatory effect.…”

Section: Joint Involvementmentioning

confidence: 99%

Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype

Ceccarelli

Perricone

Borgiani

et al. 2015

Journal of Immunology Research

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Genetic factors exert an important role in determining Systemic Lupus Erythematosus (SLE) susceptibility, interplaying with environmental factors. Several genetic studies in various SLE populations have identified numerous susceptibility loci. From a clinical point of view, SLE is characterized by a great heterogeneity in terms of clinical and laboratory manifestations. As widely demonstrated, specific laboratory features are associated with clinical disease subset, with different severity degree. Similarly, in the last years, an association between specific phenotypes and genetic variants has been identified, allowing the possibility to elucidate different mechanisms and pathways accountable for disease manifestations. However, except for Lupus Nephritis (LN), no studies have been designed to identify the genetic variants associated with the development of different phenotypes. In this review, we will report data currently known about this specific association.

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Section: Joint Involvementmentioning

confidence: 99%

Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype

Ceccarelli

Perricone

Borgiani

et al. 2015

Journal of Immunology Research

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“…VDR FokI (rs2228570) polymorphism is a T>C change producing a truncated VDR protein, is one of the most studied SNPs and has been associated with renal manifestation [99]. De Azevêdo Silva, et al , 2013, assessed the possible association of five Tag-SNPs, which covered most of VDR gene by linkage disequilibrium (LD), and SLE as well as its clinical manifestations´ susceptibility in a Brazilian Population [100]. The authors described association of rs11168268 with cutaneous alterations, rs3890733 with arthritis, rs2248098 with immunological alterations and the rs4760648 with anti-dsDNA antibody.…”

Section: Vdrmentioning

confidence: 99%

Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations

Silva¹,

Addobbati²,

Sandrin-Garcia³

et al. 2014

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Systemic Lupus Erythematosus (SLE) is one of the most relevant world-wide autoimmune disorders. The formation of autoantibodies and the deposition of antibody-containing immune complexes in blood vessels throughout the body is the main pathogenic mechanism of SLE leading to heterogeneous clinical manifestations and target tissue damage. The complexity of etiology and pathogenesis in SLE, enclosing genetic and environmental factors, apparently is one of the greatest challenges for both researchers and clinicians. Strong indications for a genetic background in SLE come from studies in families as well as in monozygotic and dizygotic twins, discovering several SLE-associated loci and genes (e.g. IRF5, PTPN22, CTLA4, STAT4 and BANK1). As SLE has a complex genetic background, none of these genes is likely to be entirely responsible for triggering autoimmune response in SLE even if they disclosure a potentially novel molecular mechanisms in the pathogenesis' disease. The clinical manifestations and disease severity varies greatly among patients, thus several studies try to associate clinical heterogeneity and prognosis with specific genetic polymorphisms in SLE associated genes. The continue effort to describe new predisposing or modulating genes in SLE is justified by the limited knowledge about the pathogenesis, assorted clinical manifestation and the possible prevention strategies. In this review we describe newly discovered, as well as the most studied genes associated to SLE susceptibility, and relate them to clinical manifestations of the disease.

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“…Vitamin D appears to play a critical role in the prevention of UV-induced DNA damage; photosensitivity and the eruption of erythematous rashes is a well described phenomenon in SLE patients. In a Brazilian population of SLE patients the rs11168268 VDR mutation was associated with “cutaneous alterations” (21). In this same Brazilian population the rs7805969 polymorphism in the STK17A gene, a DNA repair related gene, was associated with cutaneous manifestations of SLE (22).…”

Section: Genetics Of Cutaneous Manifestations Of Slementioning

confidence: 99%

Immunogenetics of cutaneous lupus erythematosus

Hersh

Arkin

Prahalad

2016

Current Opinion in Pediatrics

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Purpose of the review Systemic lupus erythematosus (SLE) is the prototypic autoimmune condition, often affecting multiple organ systems, including the skin. Cutaneous lupus (CLE) is distinct from SLE with symptoms isolated to the skin. Histopathologically the hallmark of lupus-specific manifestations of SLE and CLE is an interface dermatitis. The etiology of SLE and CLE is likely multifactorial and may include shared genetic factors. In this review we will discuss the genetic findings related to the cutaneous manifestations of SLE and isolated CLE, with a particular focus on the lupus-specific CLE subtypes. Recent Findings Several MHC and non-MHC genetic polymorphisms have been identified which may contribute to the cutaneous manifestations of SLE and to CLE. Most of these genetic variants are associated with mechanisms attributed to the pathogenesis of SLE including pathways involved in interferon and vitamin D regulation and UV light exposure. Although there is overlap between the genetic factors associated with SLE and CLE, there appear to be unique genetic factors specific for CLE. Summary Improved understanding of the genetics of CLE may lead to the creation of targeted therapies, improving outcomes for patients with this challenging dermatologic condition.

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Vitamin D receptor (VDR) gene polymorphisms and susceptibility to systemic lupus erythematosus clinical manifestations

Cited by 28 publications

References 41 publications

Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype

Genetic Factors in Systemic Lupus Erythematosus: Contribution to Disease Phenotype

Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations

Immunogenetics of cutaneous lupus erythematosus

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