RGD Reference Report - Polymorphisms in the vitamin d receptor gene and parathyroid hormone gene in the development and progression of diabetes mellitus and its chronic complications, diabetic nephropathy and non-diabetic renal disease. - 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   new 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

Polymorphisms in the vitamin d receptor gene and parathyroid hormone gene in the development and progression of diabetes mellitus and its chronic complications, diabetic nephropathy and non-diabetic renal disease.

Authors: Vedralova, M  Kotrbova-Kozak, A  Zeleznikova, V  Zoubkova, H  Rychlik, I  Cerna, M 
Citation: Vedralova M, etal., Kidney Blood Press Res. 2012;36(1):1-9. doi: 10.1159/000339021. Epub 2012 Jun 18.
RGD ID: 7242744
Pubmed: PMID:22777106   (View Abstract at PubMed)
DOI: DOI:10.1159/000339021   (Journal Full-text)

Background : We chose to study polymorphisms of vitamin D receptor gene (VDR) and parathyroid hormone genes (PTH), whose protein products significantly affect calciumphosphate metabolism in kidneys and are implicated in the pathogenesis of diabetes, which may also involve kidney damage. Methods : Distribution of genotypes of four polymorphisms in VDR gene i.e TaqI (rs731236), BsmI (rs1544410) ApaI (rs7975232), FokI (rs2228570) and two polymorphisms of PTH gene, i.e. DraII (rs6256), BstBI (rs6264), were studied using PCRRFLP. Examined groups consisted of 147 patients with diabetes (DM), 47 patients with nondiabetic renal disease (NDRD), 132 patients with diabetic nephropathy (DN) and 118 healthy subjects. Conclusion : Comparison of DN group and healthy subjects identified statistically significant difference for the FokI polymorphism in VDR gene (P<10-4) and also for the BstBI polymorphism in PTH gene (P=0,023). Differences in DraII polymorphism distribution in PTH gene were statistically significant in each group of patients compared to healthy subjects. In DN patients, the BBFFAATt combination of VDR gene was more frequent than in healthy subjects (P=0,046), and the BbFFAaTt variant was more frequent than in DM2 patients (P=0,018). The BBDD haplotype of PTH gene seems to be a predisposing factor for diabetes itself (P=0,019).

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Diabetic Nephropathies  IAGP 7242744DNA:snps:exon more ...RGD 
Diabetic Nephropathies  ISOPTH (Homo sapiens)7242744; 7242744DNA:snps:exon more ...RGD 
type 1 diabetes mellitus  IAGP 7242744DNA:snp:exon:g.350C>A rs6256 (human)RGD 
type 1 diabetes mellitus  ISOPTH (Homo sapiens)7242744; 7242744DNA:snp:exon:g.350C>A rs6256 (human)RGD 
type 2 diabetes mellitus  IAGP 7242744DNA:snp:exon:g.350C>A rs6256 (human)RGD 
type 2 diabetes mellitus  ISOPTH (Homo sapiens)7242744; 7242744DNA:snp:exon:g.350C>A rs6256 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Beta-cell dysfunction  IAGP 7242744DNA:snp:exon:g.350C>A (rs6256)RGD 
Decreased glomerular filtration rate  IAGP 7242744DNA:snps:exon more ...RGD 
Hyperglycemia  IAGP 7242744DNA:snp:exon:g.350C>A (rs6256)RGD 
Hypoinsulinemia  IAGP 7242744DNA:snp:exon:g.350C>A (rs6256)RGD 
Insulin resistance  IAGP 7242744DNA:snp:exon:g.350C>A (rs6256)RGD 
Proteinuria  IAGP 7242744DNA:snps:exon more ...RGD 
Retinopathy  IAGP 7242744DNA:snps:exon more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Pth  (parathyroid hormone)

Genes (Mus musculus)
Pth  (parathyroid hormone)

Genes (Homo sapiens)
PTH  (parathyroid hormone)


Additional Information