Association between vitamin D receptor polymorphisms and systemic lupus erythematosus in an Indian cohort

Mahto, Harishankar; Tripathy, Rina; Das, B. K.; Panda, Aditya K.

doi:10.1111/1756-185x.13245

Cited by 32 publications

(36 citation statements)

References 46 publications

(101 reference statements)

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“…As vitamin D‐related response dependent on levels of vitamin and its receptor, combined analysis of 25‐OH vitamin D 3 and VDR polymorphisms are essential to decipher actual role of vitamin D molecules in heart failure. A recent study investigated combined analysis of VDR variants and levels of 25‐OH vitamin D 3 and demonstrated a significant role of VDR and plasma levels with susceptibility to SLE and lupus nephritis . In the present study also, we observed a significant combined role of VDR and plasma vitamin D with susceptibility to heart failure; subjects with VDR mutants and insufficient/deficient 25‐OH vitamin D 3 levels are likely to have heart failure compared to other combination.…”

Section: Discussionsupporting

confidence: 77%

“…As described earlier, vitamin D receptor polymorphisms ( FokI , TaqI , BsmI , and ApaI ) were genotyped by polymerase chain reaction followed by restriction fragment length polymorphism (PCR‐RFLP). Thermocycling condition for amplification of PCR fragment was as follows: initial denaturation for 5 minutes at 95°C, followed by 35 cycles of denaturation at 95°C for 40 seconds, annealing at 60°C for 45 seconds, and extension at 72°C for 45 seconds.…”

Section: Methodsmentioning

confidence: 99%

“…These variants ( FokI , TaqI , BsmI , and ApaI ) are believed to controlled vitamin D signaling; however, reports are contradictories. A very recent study showed association of FokI and TaqI polymorphism with plasma levels of 25‐OH vitamin D 3 …”

Section: Introductionmentioning

confidence: 99%

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Vitamin D levels and vitamin D receptor variants are associated with chronic heart failure in Chinese patients

Hao

Chen

2019

Clinical Laboratory Analysis

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BackgroundVitamin D is an indispensable molecule for human health. Wide ranges of diseases are linked with vitamin D deficiencies. Role of vitamin D in chronic heart failure has been demonstrated in different populations; however, reports are limited in Chinese population. Vitamin D exerts its effect through vitamin D receptor and variants in vitamin D receptor (VDR) gene are shown to affect vitamin D signaling. In the present study, we hypothesized that both vitamin D levels and VDR variants could be associated with the development of chronic heart failure.Materials and MethodsWe enrolled 145, chronic heart failure patients those admitted to Department of Cardiothoracic Surgery, Beijing Luhe Hospital of Capital Medical University and fulfilled NYHA inclusions criteria. In addition, ninety healthy subjects from similar geographical location were enrolled as healthy controls. Plasma levels of vitamin D were quantified by ELISA. VDR variants (BsmI, ApaI, TaqI, and FokI) were genotyped by PCR‐RFLP.ResultsPlasma levels of vitamin D were significantly lower in chronic heart patients compared to healthy controls. Heterozygous and minor allele for FokI and TaqI polymorphisms were significantly higher in heart failure patients when compared to healthy controls. In addition, combined analysis of vitamin D levels and VDR mutants revealed association of vitamin D deficiencies and VDR mutants with chronic heart failure.ConclusionsThe results of the present investigation showed an important role of vitamin D and VDR variants with chronic heart failure.

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Section: Discussionsupporting

confidence: 77%

Section: Methodsmentioning

confidence: 99%

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Vitamin D levels and vitamin D receptor variants are associated with chronic heart failure in Chinese patients

Hao

Chen

2019

Clinical Laboratory Analysis

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“…Common polymorphisms in vitamin D receptor (VDR) were genotyped by polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP), as described earlier. 48 Briefly, four sets of primers were employed for amplification of DNA fragment containing respective polymorphic site as follows gested with a respective restriction enzyme and analyzed for genotypes of subjects. Forty amplicons were randomly selected and subjected to sequencing for confirmation of genotyping methods.…”

Section: Genotyping Of Vdr Polymorphismsmentioning

confidence: 99%

Diminished 25‐OH vitamin D₃ levels and vitamin D receptor variants are associated with susceptibility to type 2 diabetes with coronary artery diseases

Wang²,

Chen

et al. 2019

Clinical Laboratory Analysis

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Background: Role of plasma vitamin D and genetic variants of its receptor (VDR) in susceptibility to different diseases has been documented. Various studies in different populations have been highlighted strong associations with diabetes and cardiovascular diseases. Vitamin D deficiency has been linked with the development of type 2 diabetes (T2D) and the onset of coronary artery diseases (CAD). However, the role of vitamin D in predisposition to CAD in patients with T2D is ill-defined. Materials and Methods:We enrolled 674 Chinese T2D patients, and based on clinical phenotype, patients were further categorized into patients with (n = 138) or without coronary artery disease (n = 536). Five hundred twenty-one healthy subjects from similar geographical areas, free from diabetic or coronary disorders, were enrolled as controls. Serum levels of 25-OH vitamin D were quantified by ELISA. Common VDR (FokI, TaqI, BsmI, and ApaI) polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: Patients with T2D displayed lower levels of 25-OH vitamin D comparedwith healthy controls. Furthermore, T2D patients with CAD clinical phenotype had the lowest levels of vitamin D. Prevalence of FokI and TaqI mutants was significantly higher in diabetic patients when compared to controls. Interestingly, Tt genotype was more frequent in the artery disease group in comparison with T2D patients without heart involvement. Combined analysis of VDR polymorphisms and serum levels of vitamin D revealed a significant role in predisposition to T2D with or without CAD. Conclusions: Lower vitamin D levels and variants of VDR polymorphisms (FokI andTaqI) are associated with susceptibility to T2D and clinical manifestation. K E Y W O R D SChinese, coronary artery disease; vitamin D, polymorphism, Type-2 diabetes, vitamin D receptor

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“…VDR is also expressed in immunocytes, and hence, the immune-physiological effects of 1,25-(OH) 2 D 3 in various immunocytes can be implemented via binding with the VDR, which mediates the gene transcription via association with the VDRE [7]. Another piece of evidence that suggests a potential role of vitamin D in the immune system and the mediation of autoimmune diseases is that a few well-described VDR polymorphisms, namely, ApaI , FokI , BsmI , and TaqI , were demonstrated to be associated with the risk of the development of autoimmunity [24,25]. Nevertheless, data regarding the mechanism as to how VDRE affects the downstream functions of immunocytes are limited.…”

Section: Vitamin D Its Nature and Impact On Various Body Systemsmentioning

confidence: 99%

The Impact of Vitamin D on the Immunopathophysiology, Disease Activity, and Extra-Musculoskeletal Manifestations of Systemic Lupus Erythematosus

Mak

2018

IJMS

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Over the past two decades it has been increasingly recognized that vitamin D, aside from its crucial involvement in calcium and phosphate homeostasis and the dynamics of the musculoskeletal system, exerts its influential impact on the immune system. The mechanistic roles that vitamin D plays regarding immune activation for combating infection, as well as pathologically and mediating autoimmune conditions, have been progressively unraveled. In vitro and in vivo models have demonstrated that the action of vitamin D on various immunocytes is not unidirectional. Rather, how vitamin D affects immunocyte functions depends on the context of the immune response, in the way that its suppressive or stimulatory action offers physiologically appropriate and immunologically advantageous outcomes. In this review, the relationship between various aspects of vitamin D, starting from its adequacy in circulation to its immunological functions, as well as its autoimmune conditions, in particular systemic lupus erythematosus (SLE), a prototype autoimmune condition characterized by immune-complex mediated inflammation, will be discussed. Concurring with other groups of investigators, our group found that vitamin D deficiency is highly prevalent in patients with SLE. Furthermore, the circulating vitamin D levels appear to be correlated with a higher disease activity of SLE as well as extra-musculoskeletal complications of SLE such as fatigue, cardiovascular risk, and cognitive impairment.

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Association between vitamin D receptor polymorphisms and systemic lupus erythematosus in an Indian cohort

Abstract: FokI and TaqI variants are significantly associated with SLE in an eastern Indian cohort. The cause-effect relationship can be assessed from the combined analyses of VDR polymorphism, plasma vitamin D levels and clinical manifestations.

Cited by 32 publications

References 46 publications

Vitamin D levels and vitamin D receptor variants are associated with chronic heart failure in Chinese patients

Vitamin D levels and vitamin D receptor variants are associated with chronic heart failure in Chinese patients

Diminished 25‐OH vitamin D₃ levels and vitamin D receptor variants are associated with susceptibility to type 2 diabetes with coronary artery diseases

The Impact of Vitamin D on the Immunopathophysiology, Disease Activity, and Extra-Musculoskeletal Manifestations of Systemic Lupus Erythematosus

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Association between vitamin D receptor polymorphisms and systemic lupus erythematosus in an Indian cohort

Abstract: FokI and TaqI variants are significantly associated with SLE in an eastern Indian cohort. The cause-effect relationship can be assessed from the combined analyses of VDR polymorphism, plasma vitamin D levels and clinical manifestations.

Cited by 32 publications

References 46 publications

Vitamin D levels and vitamin D receptor variants are associated with chronic heart failure in Chinese patients

Vitamin D levels and vitamin D receptor variants are associated with chronic heart failure in Chinese patients

Diminished 25‐OH vitamin D3 levels and vitamin D receptor variants are associated with susceptibility to type 2 diabetes with coronary artery diseases

The Impact of Vitamin D on the Immunopathophysiology, Disease Activity, and Extra-Musculoskeletal Manifestations of Systemic Lupus Erythematosus

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Diminished 25‐OH vitamin D₃ levels and vitamin D receptor variants are associated with susceptibility to type 2 diabetes with coronary artery diseases