Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis

Mittal, Rama Devi; Mishra, Dhruva K.; Srivastava, Priyanka; Manchanda, Parmeet Kaur; Bid, Hemant K.; Kapoor, Rakesh

doi:10.1007/s12291-010-0023-0

Cited by 22 publications

(20 citation statements)

References 33 publications

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“…The SNP's in the VDR gene is also known to be associated with several diseases such as neurological diseases, different types of cancer, and diabetes in different populations [10][11][12][13][14]. Role of VDR polymorphisms in diabetes may be justified by making the argument that due to allelic differences in the VDR gene; the VDR mediated signaling of Vitamin D may get affected.…”

Section: Discussionmentioning

confidence: 99%

“…VDR is encoded by the VDR gene located on the chromosome 12 (12q12-q14). Several VDR polymorphisms have been reported in case of different populations suffering from different metabolic diseases [10][11][12][13]. In the recent years, these polymorphisms are also known to be associated with both the risk of occurrence of diabetes in the various diabetic populations [14].…”

Section: Introductionmentioning

confidence: 99%

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Vitamin D Receptor Gene Polymorphisms and Haplotype Analysis in Type 2 Diabetes Mellitus Patients From North India

Taneja

Khadgawat

Mani

2017

Asian J Pharm Clin Res

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Objective: Vitamin D receptor (VDR) mediated Vitamin D signaling is important for expression of insulin gene and glucose transporters, which help in glucose uptake by cells. Current evidence suggests that four common polymorphisms (FokI, BsmI, ApaI, TaqI) of VDR gene are associated with Type 2 diabetes mellitus (T2DM) in different populations. However, there is a scarcity of data on VDR polymorphisms from Indian population.Methods: In the current study, total genomic DNA was isolated from 100 well-characterized T2DM patients and 100 healthy controls. We investigated the prevalence of FokI and ApaI polymorphisms in VDR gene of these patients by polymerase chain reaction-restriction fragment length polymorphismbased method. Taking help of our previous published data on TaqI and BsmI polymorphisms in same patients, the haplotype study was also conducted. Statistical analysis of data was performed using SPSS 21.0 software. Haplotype and linkage disequilibrium analysis was performed by Haploview software.Results: Both the wild (TT) and mutant (CC) genotype of FokI polymorphism showed a significant difference between patients and controls (p<0.001 and p<0.001, respectively). The frequency of mutant allele (C) was also significantly higher in T2DM patients than the controls (p<0.001). In case of ApaI, frequency of wild (GG) and mutant (CC) genotype was significantly different in patients and controls (p=0.017 and p=0.034). As per haplotype analysis, the CACT haplotype was predicted to be of significance in patients and consists of mutant alleles of three polymorphisms (FokI, BsmI, ApaI). Conclusion:Our study supports the association of FokI and ApaI polymorphism in T2DM. The haplotype analysis also indicates that the combinations of mutant allele of different VDR polymorphisms are probably responsible for increased susceptibility of these individuals toward T2DM.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Vitamin D Receptor Gene Polymorphisms and Haplotype Analysis in Type 2 Diabetes Mellitus Patients From North India

Taneja

Khadgawat

Mani

2017

Asian J Pharm Clin Res

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“…A lot of genetic epidemiological studies have been conducted to explore the relationship between SNPs and calcium urolithiasis and the results are inconclusive [19][20][21][22][23][24][25][26][27][28]. As one of the most important genes related with calcium metabolism, VDR gene has earned special concern.…”

Section: Commentmentioning

confidence: 99%

“…Nishijima et al [25] observed that the Taq I t allele was associated with a 5.2-fold increase in the risk for severe stone disease and increased urinary calcium levels in adult Japanese patients. Mittal et al [23] indicated that the Taq I Tt polymorphism and the Fok I Ff polymorphism are significantly associated with calcium stones in Indian people. However, there are also contrasting results have been reported.…”

Section: Commentmentioning

confidence: 99%

Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population

Wang

et al. 2011

Urol Res

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To investigate the effect of the vitamin D receptor (VDR) Fok I Bsm I Dde I Apa I Taq I polymorphism on the clinical presentation of calcium urolithiasis, 464 patients with urolithiasis and 450 age- and sex-matched healthy controls were recruited from The First Affiliated Hospital of Zhejiang University between January 2010 and March 2011. Five SNPs of VDR polymorphism were detected using polymerase chain reaction-based restriction analysis. The frequency of VDR Apa I genotypes between the patients and the healthy controls was significantly different (P = 0.006). Apa I a allele was found to be associated with increased risk of stone recurrence (P = 0.028). We also found Fok I Dde I Apa I showed a significant difference between male and female in the patients group (P < 0.05). Haplotype analysis of the five VDR polymorphisms showed a significant association with urolithiasis (global-P value = 0.0001). Genetic polymorphisms of VDR are important in the clinical presentation of patients with calcium urolithiasis in the Han population of southern China.

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“…Mossetti et al [8] found associations between the BsmI and TaqI polymorphisms and idiopathic hypocitraturia in recurrent calcium oxalate stone disease. The most recent study by Mittal et al [9] indicated that both Tt genotype of TaqI polymorphism and Ff of FokI polymorphism demonstrated a significantly higher risk for stone formation (OR = 1.830 and 3.559, respectively). However, the analysis by Chen et al [10] revealed that the BsmI polymorphism of the VDR gene was not a suitable genetic marker for urinary stone disease.…”

Section: Introductionmentioning

confidence: 99%

Vitamin D Receptor Genetic Polymorphisms and the Risk of Urolithiasis: A Meta-Analysis

et al. 2011

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Objective: Genetic variants of vitamin D receptor (VDR) were implicated in urolithiasis susceptibility in several case-control studies. However, these studies so far have provided conflicting results. In order to investigate the potential relationship, a meta-analysis was conducted. Methods: Eligible studies were retrieved via both computerized searches and review of references. The relation of VDR polymorphisms to urolithiasis was quantified on ApaI, BsmI, FokI and TaqI separately. Stratified analyses on regional characteristics and stone composition were also performed. Estimates of OR with 95% CI were summarized using the fixed- or random-effect models as appropriate. Results: A total of 17 studies were included in our analysis. There was no evidence showing significant associations between ApaI and BsmI polymorphisms and urolithiasis risk in overall estimates. However, f allele and ff+Ff genotype in the dominant model of FokI were related with an increase of urolithiasis risk. TaqI also presented with increased urolithiasis risk with t allele and tt+Tt genotype in the dominant model. Conclusion: Our meta-analysis indicated VDR polymorphisms could be potential biomarkers for urolithiasis susceptibility.

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Polymorphisms in the vitamin D receptor and the androgen receptor gene associated with the risk of urolithiasis

Abstract: Transcriptional activity of the vitamin D receptor (VDR) gene is regulated by androgen receptor (AR normocalciuric (mean=21.62 ± 3.384 vs. 20.11 ± 3.182; P=0.034

Cited by 22 publications

References 33 publications

Vitamin D Receptor Gene Polymorphisms and Haplotype Analysis in Type 2 Diabetes Mellitus Patients From North India

Vitamin D Receptor Gene Polymorphisms and Haplotype Analysis in Type 2 Diabetes Mellitus Patients From North India

Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population

Vitamin D Receptor Genetic Polymorphisms and the Risk of Urolithiasis: A Meta-Analysis

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