RGD Reference Report - Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease. - Rat Genome Database

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Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease.

Authors: Teitcher, Michael  Weinerman, Sarah  Whybra, Catharina  Beck, Michael  Sharon, Nir  Elstein, Deborah  Altarescu, Gheona 
Citation: Teitcher M, etal., Genetica. 2008 Nov;134(3):377-83. doi: 10.1007/s10709-008-9245-y. Epub 2008 Feb 16.
RGD ID: 13432071
Pubmed: PMID:18278558   (View Abstract at PubMed)
DOI: DOI:10.1007/s10709-008-9245-y   (Journal Full-text)

Fabry disease, an X-linked inborn error of metabolism, is characterized by multi-organ involvement including cardiac signs of left ventricular hypertrophy and abnormal intima-medial (IMT) thickening of arteries, progressive renal failure, neurological involvement, and more. The vitamin D receptor (VDR) and an enzyme producing vitamin D3 result in an autocrine loop with direct effects on blood vessels. The purpose of this study is to assess VDR polymorphisms (BsmI, FokI, ApaI, and TaqI) relative to clinically important disease parameters using a disease-specific severity score (MSSI) and haplotype analysis. There were statistically significant differences between females (43% of 74 patients) and males in MSSI total scores, and in general and neurologic sub-scores. There appears to be a protective effect of the TaqI tt genotype so that there were significantly lower scores in clinical categories between those with the tt genotype versus those with the TT genotype. Multivariate models of haplotypes with MSSI scores reveal that T-A-f-B and t-a-F-b haplotypes of the VDR gene polymorphisms are significantly associated with variation in the Fabry phenotype. Despite the limitations of using the MSSI score as a clinical correlate, these results are provocative and further studies in larger cohorts with more males are recommended.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
VDRHumanFabry disease susceptibilityIAGP DNA:SNPs and haplotype: :RGD 
VdrRatFabry disease susceptibilityISOVDR (Homo sapiens)DNA:SNPs and haplotype: :RGD 
VdrMouseFabry disease susceptibilityISOVDR (Homo sapiens)DNA:SNPs and haplotype: :RGD 

Objects Annotated

Genes (Rattus norvegicus)
Vdr  (vitamin D receptor)

Genes (Mus musculus)
Vdr  (vitamin D (1,25-dihydroxyvitamin D3) receptor)

Genes (Homo sapiens)
VDR  (vitamin D receptor)


Additional Information