Consequences of vitamin D receptor gene polymorphisms for growth inhibition of cultured human peripheral blood mononuclear cells by 1,25‐dihydroxyvitamin D<sub>3</sub>

Colin, Edgar M.; Weel, A.; Uitterlinden, André G.; Buurman, C. J.; Birkenhäger, J. C.; Pols, Huibert A. P.; Leeuwen, Johannes P.T.M. van

doi:10.1046/j.1365-2265.2000.00909.x

Cited by 174 publications

(123 citation statements)

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“…In the two studies involving NSCLC patients, there was no association between Cdx-2, Fok1, or Bsm1 VDR polymorphism and RFS or survival in one of them, involving patients with early-stage disease [29], whereas in the second study [17], the Fok1 genotype T was associated with a poor prognosis. The HR for death was 1.32 (95% CI, 0.98 -1.77) for C/T and 1.41 (95% CI, 0.96 -2.07) for T/T (p for trend ϭ .04), compared with the C/C reference group in patients with advanced or metastatic NSCLC.…”

Section: Vdr Expression and Relevant Polymorphismsmentioning

confidence: 91%

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Prognostic Role of Vitamin D Status and Efficacy of Vitamin D Supplementation in Cancer Patients: A Systematic Review

et al. 2011

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Section: Vdr Expression and Relevant Polymorphismsmentioning

confidence: 91%

“…VDR polymorphisms comprise a cluster of tightly linked polymorphisms at the 30-end (Apa1, Bsm1, Taq1, and a length polymorphism of a polyadenyl microsatellite in the 30-untranslated region) and the 50-end of the gene (Fok1 and Cdx-2) [17,18].…”

Section: Vdr Expression and Relevant Polymorphismsmentioning

confidence: 99%

Prognostic Role of Vitamin D Status and Efficacy of Vitamin D Supplementation in Cancer Patients: A Systematic Review

et al. 2011

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“…Arai et al (1997) showed that compared with the FokI T/T genotype, FokI C/C had 1.7-fold greater function of vitamin D-dependent transcriptional activation of a reporter construct under the control of a vitamin D response element in transfected HeLa cells. Similarly, Colin et al (2000) showed a significantly lower (50%) effective dose of 1,25-(OH) 2 D 3 in the FokI C/C genotype than in FokI C/T genotype. By switching from ATG (FokI T) to ACG (FokI C) polymorphism, the first potential start site moves to the 3 0 direction, resulting in proteins that are three amino acids shorter and more functional (Gross et al, 1996).…”

Section: Discussionmentioning

confidence: 99%

Vitamin D receptor polymorphisms and prognosis of patients with epithelial ovarian cancer

et al. 2009

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BACKGROUND: Recently, the vitamin D receptor (VDR) polymorphism FokI was shown to be associated with susceptibility to ovarian cancer. We aimed to examine whether VDR FokI polymorphisms influence the survivals of patients with epithelial ovarian cancer (EOC). METHODS: VDR polymorphisms from FokI in 101 patients with EOC were genotyped by sequencing. Overall survival was compared between FokI single nucleotide polymorphism using Kaplan -Meier survival curves with log-rank tests and the Cox proportional hazard model adjusted for ages, stages, histology, and existence of residual tumour. RESULTS: The FokI C/C genotypes were associated with better prognosis compared with the C/T and T/T genotypes (log-rank test: P ¼ 0.008; adjusted hazard ratio, 0.18; 95%CI 0.05 -0.61; P ¼ 0.006). CONCLUSIONS: These results suggest that the VDR polymorphisms from the FokI genotype may be associated with improved prognosis of patients with EOC.

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“…55 The effect on ED 50 and not on maximal inhibition was regarded as potentially significant because in this way the effect of a polymorphism would depend on the 1,25-dihydroxyvitamin D 3 status of the carrier. In summary, the functional effects of the VDR polymorphism so far reported cannot explain how the VDR contributes to the pathogenesis of autoimmune diseases.…”

Section: Discussionmentioning

confidence: 99%

Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis

2002

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Autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) are immune-mediated chronic inflammatory diseases of the liver of unknown etiology. Genetic factors appear to be involved in the pathogenesis of both diseases. 1,25-Dihydroxyvitamin D 3 has been implicated as an immunomodulator, which acts through its own receptor (VDR). Polymorphisms of the VDR have been linked to a variety of autoimmune diseases. In this study VDR polymorphisms were analyzed in 123 patients with AIH, 74 patients with PBC, and 214 controls. VDR polymorphisms were assessed by BsmI, TaqI, ApaI, and Fok endonuclease digestion after specific polymerase chain reaction (PCR) amplification. We found a significant association between the BsmI polymorphisms in PBC patients in comparison with controls ( 2 ‫؍‬ 9.49, P ‫؍‬ .009). Furthermore we detected a significant association of the Fok polymorphims in AIH patients in comparison to controls ( 2 ‫؍‬ 9.71, P ‫؍‬ .008) indicating a genetic link of VDR polymorphisms to autoimmune liver diseases such as PBC and AIH in German patients. These findings contribute to the knowledge of the complex events determining immunologic tolerance in the liver. Further studies are needed to elucidate the mechanisms by which the vitamin D receptor contributes to the development of autoimmune diseases. (HEPATOLOGY 2002;35:126-131.) A utoimmune hepatitis (AIH) is an immune-mediated chronic inflammation of the liver of unknown etiology, which is characterized by elevated serum transaminase levels, hypergammaglobulinemia, serum autoantibodies, histologic signs of interface hepatitis, and a response to immunosuppressive treatment. 1,2 Genetic factors appear to be involved in the pathogenesis of AIH. However, a conclusive role of a single genetic locus capable of explaining the etiology of AIH has not been identified thus far, and the genetic background of AIH is therefore considered to be polygenic. In previous studies human leukocyte antigens (HLA) DRB1*0301and DRB*0401 have been identified as independent determinants of susceptibility to AIH. 3,4 In addition, tumor necrosis factor ␣ (TNF-␣) and complement C4 alleles have been associated with AIH, despite the observation that both genes exhibit a strong linkage disequilibrium with the HLA A1-B8-DR3 haplotype. [5][6][7] Polymorphisms of the cytotoxic T-lymphocyte antigen 4 (CTLA4*2) have been identified as non-major histocompatibility complex (MHC) susceptibility determinants in AIH type 1. 8 In a recent analysis we have shown a lack of genetic association between idiopathic autoimmune liver diseases and hepatitis as part of the autoimmune polyendocrine syndrome type 1, which is caused by mutations in the autoimmune regulator (AIRE) gene. 9 In primary biliary cirrhosis (PBC) similar genetic factors have been analyzed to elucidate genetic susceptibility. The genetic typing of HLA class II and III alleles revealed a highly significant increase of HLA DRw8 and C4A-Q0 alleles in patients with PBC compared with controls. 10

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Consequences of vitamin D receptor gene polymorphisms for growth inhibition of cultured human peripheral blood mononuclear cells by 1,25‐dihydroxyvitamin D₃

Cited by 174 publications

References 29 publications

Prognostic Role of Vitamin D Status and Efficacy of Vitamin D Supplementation in Cancer Patients: A Systematic Review

Prognostic Role of Vitamin D Status and Efficacy of Vitamin D Supplementation in Cancer Patients: A Systematic Review

Vitamin D receptor polymorphisms and prognosis of patients with epithelial ovarian cancer

Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis

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Consequences of vitamin D receptor gene polymorphisms for growth inhibition of cultured human peripheral blood mononuclear cells by 1,25‐dihydroxyvitamin D3

Cited by 174 publications

References 29 publications

Prognostic Role of Vitamin D Status and Efficacy of Vitamin D Supplementation in Cancer Patients: A Systematic Review

Prognostic Role of Vitamin D Status and Efficacy of Vitamin D Supplementation in Cancer Patients: A Systematic Review

Vitamin D receptor polymorphisms and prognosis of patients with epithelial ovarian cancer

Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis

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Product

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Consequences of vitamin D receptor gene polymorphisms for growth inhibition of cultured human peripheral blood mononuclear cells by 1,25‐dihydroxyvitamin D₃