RGD Reference Report - CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans.

Authors: Ramos-Lopez, E  Bruck, P  Jansen, T  Herwig, J  Badenhoop, K 
Citation: Ramos-Lopez E, etal., Diabetes Metab Res Rev. 2007 Nov;23(8):631-6.
RGD ID: 2315692
Pubmed: PMID:17607662   (View Abstract at PubMed)
DOI: DOI:10.1002/dmrr.719   (Journal Full-text)

BACKGROUND: The vitamin D system has been implicated in type 1 diabetes by epidemiological and immune intervention studies as well as by polymorphisms of the vitamin D binding protein (DBP) and CYP27B1 genes. CYP2R1, a cytochrome P450 enzyme, catalyzes the formation of vitamin D3 to 25-hydroxyvitamin D3 (25(OH)D3), the main circulating vitamin D metabolite. METHODS: Two hundred and three simplex type 1 German diabetes families (609 subjects) were genotyped for the rs10741657 and for the rs12794714 polymorphisms. 25(OH)D3 levels were measured and correlated with CYP2R1 polymorphisms in 133 type 1 diabetes patients as well as its mRNA expression from peripheral blood mononuclear cells (PBMCs) in 58 type 1 diabetes patients. Frequencies and genotypes of the CYP2R1 polymorphisms were analyzed using Haploview software version 3.2. The correlation between 25(OH)D3 and CYP2R1mRNA with the genotypes of the rs10741657 and rs12794714 polymorphism was evaluated by Wilcoxon-Mann-Whitney- and ANOVA test using Bias Statistical package 7.01. RESULTS: Whereas the rs12794714 polymorphism was not associated with type 1 diabetes the variant 'G' of the rs10741657 polymorphism was more often transmitted to affected offspring (61% vs 39% P = 0.004) and was also more frequent in cases than in controls (46.1% vs 35.7%, P = 0.03). Patients carrying the genotype 'GG' or 'GA' of the rs10741657 polymorphism possessed, on average, lower levels of 25(OH)D3 compared to those with the genotype 'AA' (P = 0.003, Pc = 0.01 and P = 0.01, Pc = 0.04, respectively). CONCLUSION: Thus, our findings reveal a novel association of CYP2R1 polymorphisms in patients with type 1 diabetes and with their circulating levels of 25(OH)D3.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CYP2R1Humantype 1 diabetes mellitus susceptibilityIAGP DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)RGD 
Cyp2r1Rattype 1 diabetes mellitus susceptibilityISOCYP2R1 (Homo sapiens)DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)RGD 
Cyp2r1Mousetype 1 diabetes mellitus susceptibilityISOCYP2R1 (Homo sapiens)DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyp2r1  (cytochrome P450, family 2, subfamily r, polypeptide 1)

Genes (Mus musculus)
Cyp2r1  (cytochrome P450, family 2, subfamily r, polypeptide 1)

Genes (Homo sapiens)
CYP2R1  (cytochrome P450 family 2 subfamily R member 1)


Additional Information