Association of vitamin D receptor gene Taq I polymorphism with recurrent urolithiasis in children

Seyhan, Serkan; Yavaşçaoğlu, İsmet; Kılıçarslan, Hakan; Doğan, Hasan Serkan; Kordan, Yakup

doi:10.1111/j.1442-2042.2007.01899.x

Cited by 33 publications

(26 citation statements)

References 18 publications

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“…Some of these polymorphic forms of VDR are associated with reduced effectiveness of vitamin D, which may lead to higher risk and predisposition to various bone and endocrine diseases, such as osteoporosis, rickets, urolithiasis, and diabetes mellitus type 1. [4][5][6][7][8][9] The pathogenesis of idiopathic nephrotic syndrome (INS) remains inconclusive and controversial and is considered to be mediated by the immune system and the imbalance between T-helper cell subtype 1 (Th1) and Th2 cytokines, which are in turn regulated by 1,25-dihydroxy D3, which is the active form of vitamin D. Vitamin D exerts its effects through its receptor (VDR), which plays a role in the transcriptional inhibition of cytokine genes, subsequently affecting cytokine release. 10 Ethnic and genetic differences in the frequencies of the VDR polymorphic genotypes have been previously reported in different populations.…”

Section: Introductionmentioning

confidence: 99%

Vitamin D receptor gene TaqI and Apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

Al‐Eisa¹,

Haider²

2016

IJNRD

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Background: Vitamin D activity is controlled by vitamin D receptors (VDRs), which are affected by different genetic polymorphisms, including TaqI and Apal restriction fragment length polymorphisms (RFLPs), which have been reported to be associated with several diseases. The aim of this study was to determine the frequency and the association of VDR gene polymorphisms with idiopathic nephrotic syndrome (INS) and steroid responsiveness in Kuwaiti children. Subjects and methods: Genotypes of the VDR TaqI gene polymorphism and the Apal gene polymorphism were analyzed using polymerase chain reaction-RFLP in 78 INS patients and 56 matched controls. Results: A total of 78 INS (62 steroid sensitive [SS] and 16 steroid resistant [SR]) patientswith a mean age of 6.5±3.1 years were studied. Male:female ratio was 2:1. The TT genotype of VDR-TaqI polymorphism was detected in 41% of the INS patients compared to 42% of the controls (P=0.816). The heterozygous TC genotype was detected in 33% of INS patients compared to 46% of the controls (P=0.462). The CC genotype was detected in 25.6% of INS patients and 21% of the controls (P=0.719). The C-allele frequency, in its homozygous and heterozygous forms, was 71% in INS patients compared to 63% in the controls (P=0.342). Similarly, no significant difference was detected in terms of VDR-Apal polymorphism in INS patients compared to the controls for all the three genotypes (P=0.76, P=0.207, and P=0.364, respectively, for GG, GT, and TT genotypes). The T-allele frequency, in its homozygous and heterozygous forms, was 89% in INS patients compared to 93% in the controls (P=0.076). No significant difference was found in any of the allele frequencies between SS and SR subgroups when compared with each other or when compared to the controls. Conclusion: Our data do not support the use of VDR-TaqI or -Apal gene polymorphisms as genetic markers of INS nor do they predict steroid responsiveness in children with the disease.

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Section: Introductionmentioning

confidence: 99%

Vitamin D receptor gene TaqI and Apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

Al‐Eisa¹,

Haider²

2016

IJNRD

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“…Several studies about common allelic variations in VDR in disorders of calcium metabolism, using Bsm I, Apa I, Taq I and Fok I restriction enzymes have been performed, but the results were controversial [12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32]. While some studies disclosed an association between VDR polymorphism and bone mineral density (BMD) [12,13,14,15], others did not [16,17,18,19].…”

Section: Introductionmentioning

confidence: 99%

Vitamin D Receptor and Calcium-Sensing Receptor Gene Polymorphisms in Hypercalciuric Stone-Forming Patients

2009

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Background/Aim: Some studies have identified an association of kidney stone formation with vitamin D receptor (VDR) or calcium-sensing receptor (CaSR) polymorphisms. We aimed to evaluate the association between these polymorphisms with urinary calcium excretion (uCa) in calcium- stone-forming patients. Methods: VDR polymorphism, detected by BsmI digestion, and 3 CaSR polymorphisms (G/T at codon 986, G/A at codon 990 and C/G at codon 1011), detected by direct sequencing, were evaluated in 100 hypercalciuric (HCa) and 101 normocalciuric (NCa) calcium-stone-forming patients. Results: The total allelic frequency of VDR polymorphism was: 16% BB, 49% Bb and 35% bb. The prevalence of bb genotype was significantly higher in the HCa when compared to the NCa group (43 vs. 27%). With respect to CaSR polymorphisms, 986S, 990G and 1011E variant alleles were detected, respectively, in 5, 4 and 3% of the whole sample and 5 CaSR haplotypes were identified: 94% ARQ (wild-type), 3% SRQ, 1.5% AGQ, 1.0% ARE and 0.5% AGE. No statistical differences have been observed between NCa and HCa with respect to these CaSR haplotypes. Conclusions: The present study suggested that bb homozygous for VDR polymorphism was overrepresented in hypercalciuric stone formers. Urinary calcium excretion was not associated with CaSR polymorphism in the present sample.

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“…We thought that having a bb allele could be an independent risk factor for stone formation in normocalciuric infants, but in other studies from Turkey, Gunes et al 21 and Ö zkaya et al 24 found no significant association between BsmI VDR polymorphism and stone formation, nor did Relan et al 9 In this study, TaqI distribution differed significantly between the study and control groups, but ApaI did not. In contrast, Ozkaya et al 24 and Seyhan et al 25 found that the frequency of the ApaI AA genotype was significantly higher in the children with calcium nephrolithiasis than Gunes found no significant association of TaqI and ApaI with urolithiasis. 21 Nishijima et al 26 reported results somewhat similar to ours, finding that TaqI TT and tt genotypes are significantly higher in stone formers, and that the ApaI genotype is similar between the controls and stone formers.…”

Section: Discussionmentioning

confidence: 90%

The role of vitamin D receptor gene polymorphisms in Turkish infants with urolithiasis

et al. 2016

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Polymorphisms in the vitamin D receptor (VDR) gene have recently been reported to be associated with urinary calculi in pediatric and adult cases, but no studies have looked at the youngest period of life. The purpose of this study was to investigate the role of VDR gene polymorphisms in infantile urolithiasis in a Turkish population. We compared a study group of 104 infants (55 girls and 49 boys, mean age 6.94 ± 3.81 months) with a control group of 96 infants (51 girls and 45 boys, mean age 7.51 ± 3.23) to evaluate their demographics and metabolic risk factors. PCR-based restriction analysis of the polymorphisms on the VDR gene (BsmI and TaqI) showed statistically significant differences between study and control groups (p ¼ 0.001 and 0.043, respectively). In addition, the prevalence of the BsmI genotype was significantly different between the hypercalciuric and normocalciuric stone formers (p ¼ 0.007). Allelic frequencies were similar between the urolithiasis and control groups (p40.05). The B allele of BsmI and the A allele of ApaI were more prevalent in the hypercalciuric stone formers than in the normocalciuric stone formers (p ¼ 0.018 vs.0.036, respectively). These results suggest that the BsmI and TaqI VDR genotypes could be candidate genes leading to infantile urolithiasis. ARTICLE HISTORY

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Association of vitamin D receptor gene Taq I polymorphism with recurrent urolithiasis in children

Abstract: Taq I t allele of the VDR gene may be a risk factor for severe urolithiasis and recurrent stone disease.

Cited by 33 publications

References 18 publications

Vitamin D receptor gene <em>Taq</em>I and <em>Apa</em>l polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

Vitamin D receptor gene <em>Taq</em>I and <em>Apa</em>l polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

Vitamin D Receptor and Calcium-Sensing Receptor Gene Polymorphisms in Hypercalciuric Stone-Forming Patients

The role of vitamin D receptor gene polymorphisms in Turkish infants with urolithiasis

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