A rare haplotype of the vitamin D receptor gene is protective against diabetic nephropathy

Martin, Rosalind; McKnight, Amy Jayne; Patterson, Christopher; Sadlier, Denise; Maxwell, Alexander P.

doi:10.1093/ndt/gfp515

Cited by 34 publications

(38 citation statements)

References 47 publications

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“…To date, there are 65 publications [19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83] on the association of VDR gene SNPs in T1D: these include case-control datasets [20,22,23,25,26,27,28,…”

Section: Vitamin D Pathwaysmentioning

confidence: 99%

“…A total of 39 publications support an association between VDR SNPs rs7975232 ( ApaI ), rs1544410 ( BsmI ), rs731236 ( TaqI ) and rs10735810 ( FokI ) alone or in combination with each other, (rs757343 Tru9I , rs1540339 and rs4760648) and T1D [19,21,22,23,24,26,27,28,29,30,34,35,36,37,38,40,41,42,43,44,46,48,49,50,52,53,55,56,59,60,61,62,63,65,68,69,70,71,73] (Table 2) in comparison with 16 studies that refute it [20,25,31,32,39,45,47,51,54,57,58,64,66,67,72,74]. …”

Section: Vitamin D Pathwaysmentioning

confidence: 99%

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Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition

Penna-Martinez

Badenhoop

2017

Genes

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The etiology and pathophysiology of type 1 diabetes remain largely elusive with no established concepts for a causal therapy. Efforts to clarify genetic susceptibility and screening for environmental factors have identified the vitamin D system as a contributory pathway that is potentially correctable. This review aims at compiling all genetic studies addressing the vitamin D system in type 1 diabetes. Herein, association studies with case control cohorts are presented as well as family investigations with transmission tests, meta-analyses and intervention trials. Additionally, rare examples of inborn errors of vitamin D metabolism manifesting with type 1 diabetes and their immune status are discussed. We find a majority of association studies confirming a predisposing role for vitamin D receptor (VDR) polymorphisms and those of the vitamin D metabolism, particularly the CYP27B1 gene encoding the main enzyme for vitamin D activation. Associations, however, are tenuous in relation to the ethnic background of the studied populations. Intervention trials identify the specific requirements of adequate vitamin D doses to achieve vitamin D sufficiency. Preliminary evidence suggests that doses may need to be individualized in order to achieve target effects due to pharmacogenomic variation.

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Section: Vitamin D Pathwaysmentioning

confidence: 99%

Section: Vitamin D Pathwaysmentioning

confidence: 99%

Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition

Penna-Martinez

Badenhoop

2017

Genes

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“…Among these, Bsm I, Apa I, Taq I, Fok I and Cdx2 are the most studied polymorphisms. It has been reported that these polymorphisms are associated with various diseases including psoriasis, diabetes mellitus and cancers [10,11,12,13,14,15,16]. Up to date, there is only one study showing that the Apa I polymorphism of the VDR gene is associated with vitiligo and might play a role in the etiopathogenesis of the disease [17].…”

Section: Introductionmentioning

confidence: 99%

Analysis of Vitamin D Receptor Gene Polymorphisms in Vitiligo

Aydıngöz

Bingül²,

Doğru‐Abbasoğlu³

et al. 2012

Dermatology

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Background: Vitiligo is a progressive depigmenting disorder characterized by the loss of functional melanocytes from the epidermis. The etiopathogenesis of vitiligo is still unclear. Vitamin D has both stimulatory and protective effects on melanocytes and acts through its nuclear vitamin D receptor (VDR) on target cells. Aim: The aim of this study was to investigate the association between VDR gene polymorphisms and susceptibility to vitiligo. Methods: 98 patients with vitiligo and 216 age- and sex-matched controls recruited from dermatology outpatients attending the same department were included in the study. Genomic DNA was extracted from peripheral blood leukocytes using a DNA isolation kit. The VDR polymorphisms of BsmI, ApaI, TaqI, FokI and Cdx2 were investigated by rapid capillary PCR with melting curve analysis. Differences in genotype distributions and allele frequencies in vitiligo cases versus controls were compared for statistical significance using χ² test. Results: Subjects with TaqI polymorphism had a 2.23-fold increased risk of developing vitiligo. Furthermore, a haplotype analysis showed that BsmI/ApaI/TaqI/FokI/Cdx2 GCCCG wassignificantly overrepresented in the vitiligo patients in comparison with controls (p = 0.031). Conclusion: This study showed that VDR TaqI gene polymorphism and the haplotype BsmI/ApaI/ TaqI/FokI/Cdx2 GCCCG may be considered as novel risk factors in vitiligo.

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“…BsmI (rs1544410) polymorphisms in intron 8 of the VDR gene have been shown to be correlated with type 2 diabetes in Caucasian and some Asian populations (Oh and Barrett-Connor, 2002;Shi et al, 2007), but the ApaI (rs7975232) polymorphisms vary among races, and their association with diabetes is controversial (Dilmec et al, 2009;Ortlepp et al, 2003;Wang et al, 2003). Some reports have been present that the relationship between BsmI/ApaI polymorphisms and type 1 diabetic nephropathy or other chronic kidney diseases (Bućan et al, 2009;Martin et al, 2010;Mohammadnejad et al, 2011;Souze et al, 2007), So far, there is no sufficient evidence of association between BsmI, ApaI polymorphisms in VDR gene and type 2 diabetic nephropathy. In this study, we use PCR-restriction fragment length polymorphism (PCR-RFLP) to determine the BsmI, ApaI genotype and allele frequency of the VDR gene in patients with type 2 Contents lists available at SciVerse ScienceDirect Gene j o u r n a l h o m e p a g e : w w w .…”

Section: Introductionmentioning

confidence: 99%