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

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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

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTHHumanDiabetic Nephropathies  IAGP DNA:snps:exon more ...RGD 
PthRatDiabetic Nephropathies  ISOPTH (Homo sapiens)DNA:snps:exon more ...RGD 
PthMouseDiabetic Nephropathies  ISOPTH (Homo sapiens)DNA:snps:exon more ...RGD 
PTHHumantype 1 diabetes mellitus  IAGP DNA:snp:exon:g.350C>A rs6256 (human)RGD 
PthRattype 1 diabetes mellitus  ISOPTH (Homo sapiens)DNA:snp:exon:g.350C>A rs6256 (human)RGD 
PthMousetype 1 diabetes mellitus  ISOPTH (Homo sapiens)DNA:snp:exon:g.350C>A rs6256 (human)RGD 
PTHHumantype 2 diabetes mellitus  IAGP DNA:snp:exon:g.350C>A rs6256 (human)RGD 
PthRattype 2 diabetes mellitus  ISOPTH (Homo sapiens)DNA:snp:exon:g.350C>A rs6256 (human)RGD 
PthMousetype 2 diabetes mellitus  ISOPTH (Homo sapiens)DNA:snp:exon:g.350C>A rs6256 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTHHumanBeta-cell dysfunction  IAGP DNA:snp:exon:g.350C>A (rs6256)RGD 
PTHHumanDecreased glomerular filtration rate  IAGP DNA:snps:exon more ...RGD 
PTHHumanHyperglycemia  IAGP DNA:snp:exon:g.350C>A (rs6256)RGD 
PTHHumanHypoinsulinemia  IAGP DNA:snp:exon:g.350C>A (rs6256)RGD 
PTHHumanInsulin resistance  IAGP DNA:snp:exon:g.350C>A (rs6256)RGD 
PTHHumanProteinuria  IAGP DNA:snps:exon more ...RGD 
PTHHumanRetinopathy  IAGP DNA: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