Relationship Between the ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), and TaqI (rs731236) Variants in the Vitamin D Receptor Gene and Urolithiasis Susceptibility: An Updated Meta-Analysis and Trial Sequential Analysis

Chen, Guangyuan; Hu, Cong; Song, Yuxuan; Xiu, Mengxi; Liang, Wanfeng; Ou, Ningjing; Liu, Xiaoqiang; Huang, Peng

doi:10.3389/fgene.2020.00234

Cited by 5 publications

(4 citation statements)

References 46 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Therefore, this TagSNP could improve the BMD in these patients. Furthermore, it covers three well‐recognized SNPs (Apa‐I, Bsm‐I and Taq‐I) that may potentially influence the stability of RNAm at the VDR gene (Chen et al., 2020). Some studies observed an association between the presence of these restriction sites (Apa‐I, Bsm‐I and Taq‐I) with increased BMD, higher peak bone mass and even a decrease of bone loss in Iranian, Turkish, Chinese and Dutch populations (Creatsa et al., 2011; Jakubowska‐Pietkiewicz et al., 2012; Li et al., 2012; Özaydin et al., 2010; Pouresmaeili et al., 2013; Qin et al., 2004).…”

Section: Discussionmentioning

confidence: 99%

Vitamin D receptor gene polymorphisms influence on clinical profile and bone mineral density at different skeletal sites in postmenopausal osteoporotic women

Silva

Lima

Guaraná

et al. 2023

Int J Immunogenetics

View full text Add to dashboard Cite

Bone remodeling is marked by bone synthesis and absorption balance, and any altered dynamic in this process leads to osteoporosis (OP). The interaction of hormonal, environmental and genetic factors regulate bone metabolism. Since vitamin D displays a classic role in bone metabolism regulation, acting through vitamin D receptor (VDR), the genetic variants within VDR were the first ones associated with bone density and remodelling. Therefore, we investigated whether three single nucleotide polymorphisms (SNPs) within VDR were associated with OP differential susceptibility and clinical profile from postmenopausal versus healthy women from Northeast Brazil. Genetic association study enrolling 146 postmenopausal osteoporotic women as the patient group and 95 healthy age‐matched women as the control group. We assessed three SNPs within VDR (rs11168268, rs1540339 and rs3890733), considering the clinical profile of all patients. Our results showed an association of rs11168268 G/G genotype with higher bone mineral density (BMD) mean for the total hip (A/A = 0.828 ± 0.09; A/G = 0.081 ± 0.13; G/G = 0.876 ± 0.12, p = .039), and the rs3890733 T/T genotype was associated with increased OP risk in patients below 60 years old (odds ratio [OR] = 5.12, 95% confidence interval [CI ]= 1.13–23.27, p = .012). The rs1540339 T/T genotype was associated with protection for individuals with low melanin deposition when compared to the high melanin deposition group (OR = 0.24, 95%CI = 0.06–0.94, p = .029). Additionally, 61% of patients presented deficient vitamin D serum levels. The SNP rs11168268 G/G was associated with a significantly increased mean total hip BMD in patients OP, highlighting this SNP and its relationship with BMD.

show abstract

Section: Discussionmentioning

confidence: 99%

Vitamin D receptor gene polymorphisms influence on clinical profile and bone mineral density at different skeletal sites in postmenopausal osteoporotic women

Silva

Lima

Guaraná

et al. 2023

Int J Immunogenetics

View full text Add to dashboard Cite

show abstract

“…Although generating a silent mutation, this transition changes some functional characteristics of the protein, with the T allele associated with increased transcriptional activity, mRNA stability, and a high vitamin D serum level [36,37]. Another functional SNP is the FokI (rs2228570) that modifies the translation initiation codon (C>T) and produces a peptide shorter by three amino acids (424<427) with a higher transcriptional activity compared to the original, leading to a change in the VDR protein activity [38,39]. However, this effect appears to be gene-specific and cell-type-specific.…”

Section: Of 17mentioning

confidence: 99%

Bariatric Surgery and Vitamin D: Trends in Older Women and Association with Clinical Features and <em>VDR </em>Gene Polymorphisms.

Benito¹,

Kogawa²,

Silva³

et al. 2022

Preprint

View full text Add to dashboard Cite

(1) Background: Obesity and its comorbidities can cause burdens and limitations. Bariatric surgery (BS) is indicated as a safe procedure to reduce body mass and improve present comorbidities. Yet, several complications were reported, like vitamin D [25(OH)D] deficiency. We evaluated if 25(OH)D serum levels relate to clinical characteristics, symptoms, or habits in women after their BS and whether the vitamin D receptor (VDR) gene's TaqI and FokI polymorphisms affected 25(OH)D levels and the total body bone mineral density (TBBMD). (2) Methods: This cohort cross-sectional comparative analytical prospective study consisted of 27 women, 61.6 ± 5.0 years, submitted to BS one year prior at a public reference hospital, DF-Brazil. All participants were asked to follow the physical and dietary activity recommendations and received vitamin D3 supplements. Their anthropometric, biochemical, and immunological measurements and blood samples were obtained. (3) Results: 73.3% of participants had low 25(OH)D levels, and their levels correlated positively with TBBMD and negatively with systolic pressure. VDR TaqI did not affect 25(OH)D levels, whereas VDR FokI's allele f presence correlated to a median rise in 25(OH)D levels. Neither polymorphism correlated to TBBMD. (4) Conclusions: 25(OH)D levels were positively correlated with TBBMD, negatively with systolic blood pressure, and were higher in those with the VDR FokI allele f.

show abstract

“…Although generating a silent mutation, this transition changes some functional characteristics of the protein, with the T allele associated with higher transcriptional activity, mRNA stability, and vitamin D serum level [ 36 , 37 ]. Another functional SNP is the Fok I (rs2228570) that modifies the translation initiation codon (C > T) and produces a peptide shorter by three amino acids (424 < 427) with a higher transcriptional activity compared to the original, leading to a change in the VDR protein activity [ 38 , 39 ]. However, this effect appears to be gene-specific and cell-type-specific.…”

Section: Introductionmentioning

confidence: 99%

Bariatric Surgery and Vitamin D: Trends in Older Women and Association with Clinical Features and VDR Gene Polymorphisms

et al. 2023

View full text Add to dashboard Cite

(1) Background: Obesity and its comorbidities can cause burdens and limitations. Bariatric surgery (BS) is indicated as a safe procedure to reduce body mass and improve present comorbidities. However, several complications were reported, such as vitamin D [25(OH)D] deficiency. We evaluated if 25(OH)D serum levels relate to clinical characteristics, symptoms, or habits in women after their BS, and whether the vitamin D receptor (VDR) gene’s TaqI and FokI polymorphisms affected 25(OH)D levels and the total body bone mineral density (TBBMD). (2) Methods: This cohort cross-sectional comparative analytical prospective study consisted of 27 women, 61.6 ± 5.0 years, submitted to BS one year prior at a public reference hospital, DF-Brazil. All participants were asked to follow the physical and dietary activity recommendations and received vitamin D3 supplements. Their anthropometric, biochemical, and immunological measurements and blood samples were obtained. (3) Results: 73.3% of participants had low 25(OH)D levels, and their levels correlated positively with TBBMD and negatively with systolic pressure. VDR TaqI did not affect 25(OH)D levels, whereas VDR FokI’s allele f presence correlated to a median rise in 25(OH)D levels. Neither polymorphism correlated to TBBMD. (4) Conclusions: 25(OH)D levels were positively correlated with TBBMD, negatively with systolic blood pressure, and were higher in those with the VDR FokI allele f.

show abstract

Relationship Between the ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), and TaqI (rs731236) Variants in the Vitamin D Receptor Gene and Urolithiasis Susceptibility: An Updated Meta-Analysis and Trial Sequential Analysis

Cited by 5 publications

References 46 publications

Vitamin D receptor gene polymorphisms influence on clinical profile and bone mineral density at different skeletal sites in postmenopausal osteoporotic women

Vitamin D receptor gene polymorphisms influence on clinical profile and bone mineral density at different skeletal sites in postmenopausal osteoporotic women

Bariatric Surgery and Vitamin D: Trends in Older Women and Association with Clinical Features and <em>VDR </em>Gene Polymorphisms.

Bariatric Surgery and Vitamin D: Trends in Older Women and Association with Clinical Features and VDR Gene Polymorphisms

Contact Info

Product

Resources

About