Evaluation of vitamin D receptor gene polymorphisms (<i>Fok‐I and Bsm‐I</i>) in T1DM Saudi children

Ali, Rabab; Fawzy, Iman M.; Mohsen, Ihsan; Settin, Ahmad

doi:10.1002/jcla.22397

Cited by 29 publications

(26 citation statements)

References 43 publications

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“…The pathogenetic role of vitamin D in T1DM onset is debated. The Type 1 Diabetes Genetic Consortium, which genotypically characterized 38 single nucleotide polymorphisms (SNPs) in more than 1500 families with T1DM, did not observe correlations between SNPs in the VDR and T1DM [138], even if associations between some VDR polymorphisms (BsmI, FokI, TaqI, ApaI) and T1DM have been pinpointed in several population studies [139][140][141][142][143][144][145][146][147][148]. In 2017, Sahin OA et al [149] published a meta-analysis, with the aim to evaluate the relationship between ApaI, BsmI, FokI, and TaqI polymorphisms of VDR and T1DM in children.…”

Section: Type 1 Diabetes Mellitusmentioning

confidence: 99%

Pathophysiological Role and Therapeutic Implications of Vitamin D in Autoimmunity: Focus on Chronic Autoimmune Diseases

et al. 2020

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Vitamin D is a pleiotropic secosteroid yielding multiple actions in human physiology. Besides the canonical regulatory activity on bone metabolism, several non-classical actions have been described and the ability of vitamin D to partake in the regulation of the immune system is particularly interesting, though far stronger and convincing evidence has been collected in in vitro as compared to in vivo studies. Whether vitamin D is able to regulate at physiological concentrations the human immune system remains unproven to date. Consequently, it is not established if vitamin D status is a factor involved in the pathogenesis of immune-mediated diseases and if cholecalciferol supplementation acts as an adjuvant for autoimmune diseases. The development of autoimmunity is a heterogeneous process, which may involve different organs and systems with a wide range of clinical implications. In the present paper, we reviewed the current evidences regarding vitamin D role in the pathogenesis and management of different autoimmune diseases.

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Section: Type 1 Diabetes Mellitusmentioning

confidence: 99%

Pathophysiological Role and Therapeutic Implications of Vitamin D in Autoimmunity: Focus on Chronic Autoimmune Diseases

et al. 2020

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“…Several single nucleotide polymorphisms (SNPs) in the metabolic pathway of VD contribute as the genetic component to VD status. There is a set of studies dedicated to the associations between T1D and mutations related to VD metabolism genes such as VD-binding protein (VDBP), VDR [34,40,41], and CYP24A1. Moreover, polymorphisms in CYP2R1 gene encoding the enzyme involved in 25-hydroxylation of VD were also shown to be associated with a higher risk of T1D.…”

Section: Vitamin D Deficiency and Type 1 Diabetes Mellitusmentioning

confidence: 99%

Vitamin D Deficiency and Diabetes Mellitus

Shymanskyi¹,

Lisakovska²,

Mazanova³

et al. 2020

Vitamin D Deficiency

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Vitamin D (VD) is a molecule that can be synthesized directly in the humans' body or enter the organism with food in the form of inactive precursors. To exert its biological action, VD undergoes two-stage hydroxylation (at the 25th and 1st position) catalyzed by cytochromes P450, the presence of which has already been shown in almost all tissues of the human body. The product of hydroxylation is hormone-active form of vitamin D-1,25(OH) 2 D. 1,25(OH) 2 D binds to specific vitamin D receptor (VDR) and regulates the expression of genes involved in bone remodeling (classical function) and genes that control immune response, hormone secretion, cell proliferation, and differentiation (nonclassical functions). VD deficiency is prevalent around the globe and may be one of the key factors for diabetes development. The direct association between vitamin D deficiency and type 1 (T1D) and type 2 (T2D) diabetes has been proven. Detection of VDR in pancreas and adipose tissue, skeletal muscles, and immune cells allowed implying the antidiabetic role of vitamin D by enhancing insulin synthesis and exocytosis, increasing the expression of the insulin receptor, and modulating immune cells' functions. This chapter summarizes data about relationship between VD insufficiency/deficiency and development of T1D and T2D, and their complications.

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“…Overall, 29 case-control studies with cases and 5578 controls were analyzed for assessment of FokI polymorphism and T1DM risk. Of 29 studies, 15 studies were conducted in European countries [15,[34][35][36][37][38][39][40][41][42][43][44], 9 studies were in Asian countries [45][46][47][48][49][50][51][52][53], 3 studies were in African population [54][55][56] and eventually one study in Australia [57] and one study in American population [58]. Among studies were performed in Europe, Audi et al [37] conducted an association study in different city of Spain (Barcelona and Navarra) and reported all data separately including genotype and allele frequency; thus we considered each population as a separate study.…”

Section: Meta-analysis Of the Association Between Foki (Rs2228570) Pomentioning

confidence: 99%

“…It was detected that 15 studies with 1938 cases and 4450 controls were performed in European countries [15, 34-38, 40-42, 44, 59, 60] which among these 15 studies, Turpeinen et al [36] conducted an association study in different city of Finland (Turku, Tampere and Oulu) and reported all data separately, including genotype and allele frequency; thus we considered each population as a separate study. Moreover, 14 studies out of 35 eligible studies were carried out in Asian populations [46,48,49,52,53,[61][62][63][64][65][68][69][70][71], 3 studies were in Americans [58,67,72] and three studies were in Africans [54,56,66] Table 3.…”

Section: Meta-analysis Of the Association Between Bsmi (Rs1544410) Pomentioning

confidence: 99%

Vitamin D receptor gene polymorphisms and the risk of the type 1 diabetes: a meta-analysis based on 40 case–control studies

Zhai¹,

Bidares

Makoui

et al. 2020

Preprint

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Background: The association between the polymorphisms in the vitamin D receptor (VDR) gene and the risk of type 1 diabetes mellitus (T1DM) has been evaluated in several studies. However, the findings were inconclusive. Thus, we conducted a meta-analysis to comprehensively evaluate the effect of VDR gene polymorphisms on the risk of T1DM.Methods: All relevant studies reporting the association between VDR gene polymorphisms and susceptibility to T1DM published up to May 2020 were identified by comprehensive systematic database search in ISI Web of Science, Scopus, and PubMed/MEDLINE. Strength of association were assessed by calculating of pooled odds ratios (ORs) and 95% confidence intervals (CIs). The methodological quality of each study was assessed according to the Newcastle–Ottawa Scale. To find the potential sources of heterogeneity, meta-regression and subgroup analysis were also performed. Results: A total of 40 case–control studies were included in this meta-analysis. The results of overall population rejected any significant association between VDR gene polymorphisms and T1DM risk. However, the pooled results of subgroup analysis revealed significant negative and positive associations between FokI and BsmI polymorphisms and T1DM in Africans and Americans, respectively. Conclusions: This meta-analysis suggested a significant association between VDR gene polymorphism and T1DM susceptibility in ethnic-specific analysis.

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Evaluation of vitamin D receptor gene polymorphisms (Fok‐I and Bsm‐I) in T1DM Saudi children

Abstract: This study emphasizes a positive association between SNPs (Fok-I and Bsm-I) and T1DM among Saudi children with increased risk with the Fok-I F and Bsm-I b alleles.

Cited by 29 publications

References 43 publications

Pathophysiological Role and Therapeutic Implications of Vitamin D in Autoimmunity: Focus on Chronic Autoimmune Diseases

Pathophysiological Role and Therapeutic Implications of Vitamin D in Autoimmunity: Focus on Chronic Autoimmune Diseases

Vitamin D Deficiency and Diabetes Mellitus

Vitamin D receptor gene polymorphisms and the risk of the type 1 diabetes: a meta-analysis based on 40 case–control studies

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