Study and evaluation the impact of vitamin D receptor variants on the risk of type 2 diabetes mellitus in Han Chinese

Yu, Fei; Wang, Chong Jian; Wang, Ling; Jiang, Hong; Ba, Yue; Cui, Lijie; Yu, Song; Li, Wen Jie

doi:10.1111/1753-0407.12413

Cited by 25 publications

(28 citation statements)

References 26 publications

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“…However, Zhang et al, showed that the BB+Bb genotype and B allele frequencies in the DM group were higher than those in the control group. In contrast to our study, other studies did not determine the role of BsmI at the rs1544410 polymorphism in T2DM [28,10] . A study by Ogunkolade et al, [30] demonstrated that the VDR variant is a significant factor in VDR mRNA and VDR expression in PBMCs and confirmed an association between VDR polymorphisms and insulin secretion capacity.…”

Section: Discussioncontrasting

confidence: 99%

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Vitamin D Receptor Gene Polymorphisms and Vitamin D Levels in Egyptian Patients with Diabetic Nephropathy and Type 2 Diabetes Mellitusus

Fathy¹,

tawfeek²,

Tawfeek³

2018

The Medical Journal of Cairo University

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Aim: Type 2 diabetes and diabetic nephropathy are associated with multiple genetic variables. This study aimed to investigate the role of the vitamin D receptor (VDR) BsmI gene polymorphism and the serum level of vitamin D in Egyptian patients with diabetic nephropathy and type 2 diabetes. Material and Methods: This study involved 80 patients with type 2 diabetes without nephropathy (T2DM), 80 patients with diabetic nephropathy (DN) and 100 healthy individuals as controls. VDR BsmI gene polymorphisms were determined by PCR-RFLP, and vitamin D serum levels were determined by the electrochemiluminescence binding assay. Results: The distribution frequencies of the Bb, bb and Bb+bb genotypes in patients with DN were significantly different from those in the controls (p<0.001) and in those with T2DM (p<0.001). In addition, the b allele frequency was significantly higher in the DN group than the healthy control (OR=6.3, 95% CI, 3.7-10.7, (p<0.001) and T2DM groups (OR=1.91, 95% CI 4.0-13.5, p<0.001). The patients with DN had significantly lower levels of serum vitamin D than both the healthy controls and T2DM patients (p<0.001). Using multivariate regression analysis, diabetes duration, HbA1C, vitamin D deficiency and BsmI genotype were found to be independent risk factors for DN (p=0.019, 0.036, 0.001, 0.035, respectively). Conclusion: The VDR BsmI gene polymorphism and vitamin D deficiency are risk factors for type 2 diabetes and diabetic nephropathy.

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Section: Discussioncontrasting

confidence: 99%

“…The vitamin D receptor (VDR) gene is located on human chromosome 12q12-q14. The genetic polymorphism involved in the development of T2DM may have multiple susceptibility SNPs [10] . Of these genes, the BsmI (rs1544410) polymorphism is within the gene intron.…”

Section: Introductionmentioning

confidence: 99%

Vitamin D Receptor Gene Polymorphisms and Vitamin D Levels in Egyptian Patients with Diabetic Nephropathy and Type 2 Diabetes Mellitusus

Fathy¹,

tawfeek²,

Tawfeek³

2018

The Medical Journal of Cairo University

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“…Vitamin D is believed to exert its effect through VDR, and genetic variations in the VDR gene lead to dysfunctional vitamin D signaling. Several studies have been executed in different populations to decipher the role of VDR polymorphisms in T2D [23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39] and CAD. [40][41][42][43][44][45] To the best of our knowledge, studies on the importance of vitamin D or VDR polymorphisms in T2D patients with CAD are lacking.…”

Section: Introductionmentioning

confidence: 99%

Diminished 25‐OH vitamin D₃ levels and vitamin D receptor variants are associated with susceptibility to type 2 diabetes with coronary artery diseases

Wang²,

Chen

et al. 2019

Clinical Laboratory Analysis

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Background: Role of plasma vitamin D and genetic variants of its receptor (VDR) in susceptibility to different diseases has been documented. Various studies in different populations have been highlighted strong associations with diabetes and cardiovascular diseases. Vitamin D deficiency has been linked with the development of type 2 diabetes (T2D) and the onset of coronary artery diseases (CAD). However, the role of vitamin D in predisposition to CAD in patients with T2D is ill-defined. Materials and Methods:We enrolled 674 Chinese T2D patients, and based on clinical phenotype, patients were further categorized into patients with (n = 138) or without coronary artery disease (n = 536). Five hundred twenty-one healthy subjects from similar geographical areas, free from diabetic or coronary disorders, were enrolled as controls. Serum levels of 25-OH vitamin D were quantified by ELISA. Common VDR (FokI, TaqI, BsmI, and ApaI) polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: Patients with T2D displayed lower levels of 25-OH vitamin D comparedwith healthy controls. Furthermore, T2D patients with CAD clinical phenotype had the lowest levels of vitamin D. Prevalence of FokI and TaqI mutants was significantly higher in diabetic patients when compared to controls. Interestingly, Tt genotype was more frequent in the artery disease group in comparison with T2D patients without heart involvement. Combined analysis of VDR polymorphisms and serum levels of vitamin D revealed a significant role in predisposition to T2D with or without CAD. Conclusions: Lower vitamin D levels and variants of VDR polymorphisms (FokI andTaqI) are associated with susceptibility to T2D and clinical manifestation. K E Y W O R D SChinese, coronary artery disease; vitamin D, polymorphism, Type-2 diabetes, vitamin D receptor

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“…However, there is a drawback for this quality control method. Generally, the percentage of the retested samples is <10% . It is difficult to discover the calling error for small sample size when the error rate is low.…”

Section: Introductionmentioning

confidence: 99%

Characteristic and influencing factors of Taqman genotyping calling error

Xing

Liu

et al. 2018

Clinical Laboratory Analysis

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Background Taqman fluorescent probe was frequently applied in single nucleotide polymorphism (SNP) genotyping. However, the characteristic of calling error and the influencing factors remain unclear. Method Calling errors of Taqman genotyping was evaluated systematically based on Mendelian inheritance. Twenty‐two SNPs were genotyped by Taqman probe for 419 pedigrees. Mendelian genetic errors were counted for every SNP and pedigree. Cluster analysis was applied to investigate the compatibility between Taqman probes and DNA sample. Results On one hand, errors were found for all the SNPs. The error number ranged from 4 to 33 with median of 10.5. On the other hand, Mendelian genetic errors showed features of both randomness and cluster. Half of the pedigrees containing errors had only 1 Mendelian genetic error. But there was also a pedigree containing up to 10 Mendelian genetic errors. Furthermore, cluster analysis indicated that errors of different SNPs took place in different pedigree cluster. Conclusion It could be concluded that calling error is inevitable for Taqman genotyping of large samples. The quality of Taqman probe and DNA sample, as well as their compatibility, may account for the error incidence.

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Study and evaluation the impact of vitamin D receptor variants on the risk of type 2 diabetes mellitus in Han Chinese

Abstract: This study provides novel evidence that rs739837 is associated with lipid metabolism in T2DM patients. The rs739837 and rs2239179 SNPs were associated with the risk of T2DM in Han Chinese. The VDR SNPs had combined and additive effects on the risk of T2DM.

Cited by 25 publications

References 26 publications

Vitamin D Receptor Gene Polymorphisms and Vitamin D Levels in Egyptian Patients with Diabetic Nephropathy and Type 2 Diabetes Mellitusus

Vitamin D Receptor Gene Polymorphisms and Vitamin D Levels in Egyptian Patients with Diabetic Nephropathy and Type 2 Diabetes Mellitusus

Diminished 25‐OH vitamin D₃ levels and vitamin D receptor variants are associated with susceptibility to type 2 diabetes with coronary artery diseases

Characteristic and influencing factors of Taqman genotyping calling error

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Study and evaluation the impact of vitamin D receptor variants on the risk of type 2 diabetes mellitus in Han Chinese

Abstract: This study provides novel evidence that rs739837 is associated with lipid metabolism in T2DM patients. The rs739837 and rs2239179 SNPs were associated with the risk of T2DM in Han Chinese. The VDR SNPs had combined and additive effects on the risk of T2DM.

Cited by 25 publications

References 26 publications

Vitamin D Receptor Gene Polymorphisms and Vitamin D Levels in Egyptian Patients with Diabetic Nephropathy and Type 2 Diabetes Mellitusus

Vitamin D Receptor Gene Polymorphisms and Vitamin D Levels in Egyptian Patients with Diabetic Nephropathy and Type 2 Diabetes Mellitusus

Diminished 25‐OH vitamin D3 levels and vitamin D receptor variants are associated with susceptibility to type 2 diabetes with coronary artery diseases

Characteristic and influencing factors of Taqman genotyping calling error

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Diminished 25‐OH vitamin D₃ levels and vitamin D receptor variants are associated with susceptibility to type 2 diabetes with coronary artery diseases