Association of the vitamin D receptor gene start codon <i>Fok</i> I polymorphism with calcium oxalate stone disease

Chen, W. C.; Chen, H. Y.; Lu, Hsu‐Feng; Hsu, Cheng Der; Tsai, Fuu‐Jen

doi:10.1046/j.1464-410x.2001.02074.x

Cited by 49 publications

(30 citation statements)

References 21 publications

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“…We examined the CAG repeat length in AR gene and observed that mean CAG repeats did not differ significantly in stone patients and controls (21 repeats in both groups). This observation is in accord to study by Chen et al (17).…”

Section: Vitamin D and Androgen Receptor Genes Polymorphisms In Urolisupporting

confidence: 93%

“…Though short CAG repeat showed higher risk in males however the P-value did not reach significant. Chen et al observed a significant association of CAG repeat with stone formation and showed that long repeats are protective in men (17).…”

Section: Vitamin D and Androgen Receptor Genes Polymorphisms In Urolimentioning

confidence: 99%

“…A shorter allele has been shown to increase transactivation activity (15). The CAG repeat length for the AR is related to different diseases like prostate diseases, including prostate carcinoma and BPH (16) and also urolithiasis (17).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Mittal

Mishra

Srivastava

et al. 2010

Indian J Clin Biochem

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Section: Vitamin D and Androgen Receptor Genes Polymorphisms In Urolisupporting

confidence: 93%

Section: Vitamin D and Androgen Receptor Genes Polymorphisms In Urolimentioning

confidence: 99%

See 1 more Smart Citation

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

Mittal

Mishra

Srivastava

et al. 2010

Indian J Clin Biochem

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“…The FokI polymorphism represents a T-to-C transition (ATG to ACG) in exon 2 of the VDR gene, and the ATG encodes the translation-initiation codon of VDR mRNA (the T or f allele). This T-to-C transition results in the generation of a protein shortened by three amino acids (C or F allele), translated from the downstream ATG codon (Chen et al 2001;Chen et al 2005), while the T or f allele encodes a longer protein. This transition also results in the loss of the FokI-recognition site.…”

Section: Introductionmentioning

confidence: 99%

FokI Polymorphism of the Vitamin D Receptor Gene Is Associated with Susceptibility to Gastric Cancer: A Case-Control Study

Liu

Wang

Liu

et al. 2015

Tohoku J. Exp. Med.

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Vitamin D is a potential protective agent against cancer, and its activity is mediated mainly by vitamin D receptor (VDR). The FokI polymorphism (rs10735810) represents a T-to-C transition (ATG to ACG) in exon 2 of the VDR gene, and this ATG represents the translation-initiation codon, encoded by the f allele. The FokI polymorphism results in the generation of a protein shortened by three amino acids, translated from the downstream ATG codon (the F allele). We investigated the relationship between the FokI polymorphism and gastric cancer in a Chinese Han population. A total of 187 patients and 212 healthy controls were enrolled. The FokI polymorphism was detected by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis. The f allele frequency was higher in patients than that in controls (51.6% and 43.6%, P < 0.05). Multivariate logistics regression analysis revealed patients with the f allele (Ff + ff) showed a higher risk of gastric cancer [odds ratio (95% confidence interval) 2.73 (1.13~4.32)]. Patients with the f allele (Ff + ff) also presented a poorly differentiated type of gastric cancer (P < 0.05) and higher levels of C-reactive protein on admission than the FF group (5.5 ± 2.4 mg/L vs. 3.4 ± 1.3 mg/L, P < 0.05). Here, we show an association between the VDR FokI polymorphism and the susceptibility to gastric cancer, which may be helpful for early detection of high-risk individuals with the f allele for gastric cancer. Conversely, the F allele may be a protective factor against gastric cancer.

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“…We have been using single nucleotide polymorphisms (SNPs) as a tool for mapping the complex disease genes responsible for stone disease [8,9]. SNPs occurring naturally in genes thought to cause urolithiasis can be tested using samples from patients with known stone disease in order to test and prevent future individuals from coming down with the disease.…”

Section: Introductionmentioning

confidence: 99%

Association of E-Cadherin Gene 3’-UTR C/T Polymorphism with Calcium Oxalate Stone Disease

Tsai

Wu²,

Chen

et al. 2003

Urol Int

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Introduction: Urinary stone disease is one of the most commonly seen urological diseases in Taiwan. Single nucleotide polymorphisms (SNPs) are commonly used for the investigation of genetic markers for stone disease. E-cadherin (CDH-1) is one of the cellular junction proteins related to the integrity of epithelial cells. Our aim was to investigate a polymorphism of the CDH-1 gene 3′-UTR as a possible genetic marker in the search for the genetic causes. Materials and Methods: 148 patients with calcium oxalate stone were compared with 103 healthy controls for the frequency of CDH-1 3′-UTR polymorphisms. The polymorphism was detected by polymerase chain reaction-based restriction analysis (Pml I endonuclease). Results and Conclusions: The results revealed significant differences between normal individuals and calcium stone disease patients (p = 0.0013). The distribution of genotype TT homozygote was higher in stone patients (51.5%) than in the control group (43.4%). The odds ratio for T allele compared to C allele was 2.0. We have concluded that polymorphisms of CDH-1 3′-UTR is a valid genetic marker for calcium stone disease.

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Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease

Cited by 49 publications

References 21 publications

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

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

FokI Polymorphism of the Vitamin D Receptor Gene Is Associated with Susceptibility to Gastric Cancer: A Case-Control Study

Association of E-Cadherin Gene 3’-UTR C/T Polymorphism with Calcium Oxalate Stone Disease

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