CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients

Ramos-Lopez, Elizabeth; Bruck, Patrick T.; Jansen, Thomas; Pfeilschifter, Josef; Radeke, Heinfried H.; Badenhoop, Klaus

doi:10.1016/j.jsbmb.2006.12.056

Cited by 38 publications

(37 citation statements)

References 20 publications

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“…This reduction in expression could be linked to the GG variant of the rs10877012 polymorphism. 24 In our own material, there was a significant difference in the number of GG homozygotes between cases and controls (cases frequency: 0.46; controls frequency: 0.42, P¼0.02); therefore, we would expect a similar result in terms of CYP27B1 expression in our own material.…”

Section: Discussionmentioning

confidence: 56%

Confirmation of association between multiple sclerosis and CYP27B1

et al. 2010

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Multiple sclerosis, MS (OMIM No. 126200), is a complex inflammatory disease that is characterized by lesions in the central nervous system. Both genes and other environmental factors influence disease susceptibility. One of the environmental factors that has been implicated in MS and autoimmune disease, such as type 1 diabetes, is vitamin D deficiency, in which patients have lower levels of 25-hydroxyvitamin D3 (25-OHD 3 ) in blood than do controls. Previtamin D 3 is produced in the skin, and turned into 25-OHD 3 in the liver. In the kidney, skin and immune cells, 25-OHD 3 is turned into bioactive 1,25(OH) 2 D 3 by the enzyme coded by CYP27B1 (cytochrome P450 family 27 subfamily B peptide 1) on chromosome 12q13.1-3. 1,25(OH) 2 D 3 binds to the vitamin D receptor, expressed in T cells and antigen-presenting cells. 1,25(OH) 2 D 3 has a suppressive role in the adaptive immune system, decreasing T-cell and dendritic cell maturation, proliferation and differentiation, shifting the balance between T-helper 1 (Th1) and Th2 cells in favor of Th2 cells and increasing the suppressive function of regulatory T cells. Rs703842 in the 12q13-14 region was associated with MS in a recent study by the Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene). We show associations with three SNPs in this region in our Swedish materials (2158 cases, 1759 controls) rs4646536, rs10877012 and rs10877015 (P¼0.01, 0.01 and 3.5Â10 À3 , respectively). We imputed rs703842 SNP and performed a joint analysis with the ANZgene results, reaching a significant association for rs703842 (P¼5.1Â10 À11 ; odds ratio 0.83; 95% confidence interval 0.79-0.88). Owing to its close association with 25-OHD 3 , our results lend further support to the role of vitamin D in MS pathology.

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Section: Discussionmentioning

confidence: 56%

Confirmation of association between multiple sclerosis and CYP27B1

et al. 2010

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“…Nevertheless polymorphisms within genes of the vitamin D cascade as DBP, CYP27B1 and CYP2R1 were demonstrated to be associated with type 1 diabetes and to influence 25(OH)D 3 or their mRNA expression [9,10]. Moreover there is evidence that the Vitamin D supplementation in early life reduce the risk for type 1 diabetes [11].…”

Section: Discussionmentioning

confidence: 99%

The role of cubilin gene polymorphisms and their influence on 25(OH)D3 and 1,25(OH)2D3 plasma levels in type 1 diabetes patients

Ramos-Lopez

Lange

Penna-Martinez

et al. 2010

The Journal of Steroid Biochemistry and Molecular Biology

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“…This polymorphism is also recently shown to influence the 1,25(OH) 2 D serum levels and treatment response in chronic HCV infection, with the CC genotype being associated with reduced 1,25(OH) 2 D levels and lower sustained virologic response to the treatment with interferon (IFN)-a-based regimens (Lange et al, 2011). It is indicated that type 1 diabetic patients carrying the CYP27B1-1260 genotype CC had lower CYP27B1 mRNA levels in the peripheral blood mononuclear cells compared with healthy control subjects carrying the CC genotype (Ramos- Lopez et al, 2007). It is hypothesized that the presence of the 1118 ZHU ET AL.…”

Section: Discussionmentioning

confidence: 99%

Single-Nucleotide Polymorphism at CYP27B1-1260, but Not VDR Taq I, Is Possibly Associated with Persistent Hepatitis B Virus Infection

Zhu

Li²,

Han³

et al. 2012

Genetic Testing and Molecular Biomarkers

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Background: Vitamin D, beyond its role in calcium and bone metabolism, exhibits immunomodulatory effects on innate and adaptive immune pathways and is suggestively related to liver diseases. Objective: This study investigated the association of single-nucleotide polymorphisms in genes involved in vitamin D functions with hepatitis B virus (HBV) infection. Methods: Five hundred Chinese Han subjects, including 274 chronic HBV patients, 68 HBV infection resolvers, and 158 healthy controls without HBV infection, were studied. The CYP27B1-1260 promoter and the VDR Taq I polymorphisms were genotyped by polymerase chain reactionrestriction fragment length polymorphism. Results: Although there was no difference between HBV patients and healthy controls, HBV patients and healthy controls had a higher frequency of the CYP27B1-1260 genotype CC (15.0% vs. 2.9%, p = 0.004 and 13.3% vs. 2.9%, p = 0.006, respectively) and allele C (38.3% vs. 25.7%, p = 0.006 and 39.2% vs. 25.7%, p = 0.006, respectively) compared with resolvers. The genotype and allele frequencies of the VDR Taq I polymorphism had no difference between patients, resolvers, and healthy controls. Conclusion: These results suggest that the CYP27B1-1260 promoter polymorphism is possibly associated with the persistence, but not susceptibility to HBV infection in Chinese HBV patients, and that the VDR Taq I polymorphism is not suggested to be related to chronic HBV infection.

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CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients

Cited by 38 publications

References 20 publications

Confirmation of association between multiple sclerosis and CYP27B1

Confirmation of association between multiple sclerosis and CYP27B1

The role of cubilin gene polymorphisms and their influence on 25(OH)D3 and 1,25(OH)2D3 plasma levels in type 1 diabetes patients

Single-Nucleotide Polymorphism at CYP27B1-1260, but Not VDR Taq I, Is Possibly Associated with Persistent Hepatitis B Virus Infection

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