RGD Reference Report - Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome. - Rat Genome Database

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Vitamin D receptor genotypes are associated with bone mass in patients with Turner syndrome.

Authors: Peralta López, María  Miras, Mirta  Silvano, Liliana  Pérez, Adriana  Muñoz, Liliana  Centeno, Viviana  Sobrero, Gabriela  Ulla, María  Tolosa de Talamoni, Nori 
Citation: Peralta López M, etal., J Pediatr Endocrinol Metab. 2011;24(5-6):307-12.
RGD ID: 13432073
Pubmed: PMID:21823528   (View Abstract at PubMed)

BACKGROUND: Turner syndrome (TS) patients present low bone mineral density (BMD) and increased fracture risk, probably due to a genetic defect aggravated by hormonal deficiency.
AIM: To study the relationship between vitamin D receptor (VDR) gene polymorphisms and BMD and bone parameters in TS patients.
METHODS: DNA from 65 TS patients and 110 controls was amplified by PCR and digested with FokI, BsmI and ApaI restrictases. Lumbar and femoral BMD were determined by DEXA and serum intact parathyroid hormone, osteocalcin and beta-CrossLaps by electrochemiluminescence.
RESULTS: Genotype distribution within the ApaI site was different in both groups: genotype Aa was more abundant in TS (63.8% vs. 41.3%; p<0.01), whereas AA predominated in controls (33.9% vs. 15.5%; p<0.01). Patients carrying genotype bb (BsmI) or ff (FokI) had lower BMD than those with other genotypes (p<0.01 and p<0.05, respectively).
CONCLUSION: BsmI and FokI polymorphic sites of VDR could be genetic determinants of BMD in TS patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
VDRHumanTurner syndrome susceptibilityIAGP DNA:SNP: :rs7975232(human)RGD 
VdrRatTurner syndrome susceptibilityISOVDR (Homo sapiens)DNA:SNP: :rs7975232(human)RGD 
VdrMouseTurner syndrome susceptibilityISOVDR (Homo sapiens)DNA:SNP: :rs7975232(human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
VDRHumanReduced bone mineral density  IAGP associated with Turner Syndrome and DNA:SNPs: :(rs2228570),(rs1544410)(human)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