RGD Reference Report - Interaction between vitamin D receptor genotype and estrogen receptor alpha genotype influences vertebral fracture risk. - Rat Genome Database

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Interaction between vitamin D receptor genotype and estrogen receptor alpha genotype influences vertebral fracture risk.

Authors: Colin, EM  Uitterlinden, AG  Meurs, JB  Bergink, AP  Van de Klift, M  Fang, Y  Arp, PP  Hofman, A  Van Leeuwen, JP  Pols, HA 
Citation: Colin EM, etal., J Clin Endocrinol Metab. 2003 Aug;88(8):3777-84.
RGD ID: 10045836
Pubmed: PMID:12915669   (View Abstract at PubMed)
DOI: DOI:10.1210/jc.2002-021861   (Journal Full-text)

In view of the interactions of vitamin D and the estrogen endocrine system, we studied the combined influence of polymorphisms in the estrogen receptor (ER) alpha gene and the vitamin D receptor (VDR) gene on the susceptibility to osteoporotic vertebral fractures in 634 women aged 55 yr and older. Three VDR haplotypes (1, 2, and 3) of the BsmI, ApaI, and TaqI restriction fragment length polymorphisms and three ERalpha haplotypes (1, 2, and 3) of the PvuII and XbaI restriction fragment length polymorphisms were identified. We captured 131 nonvertebral and 85 vertebral fracture cases during a mean follow-up period of 7 yr. ERalpha haplotype 1 was dose-dependently associated with increased vertebral fracture risk (P < 0.001) corresponding to an odds ratio of 1.9 [95% confidence interval (CI), 0.9-4.1] per copy of the risk allele. VDR haplotype 1 was overrepresented in vertebral fracture cases. There was a significant interaction (P = 0.01) between ERalpha haplotype 1 and VDR haplotype 1 in determining vertebral fracture risk. The association of ERalpha haplotype 1 with vertebral fracture risk was only present in homozygous carriers of VDR haplotype 1. The risk of fracture was 2.5 (95% CI, 0.6-9.9) for heterozygous and 10.3 (95% CI, 2.7-40) for homozygous carriers of ERalpha haplotype 1. These associations were independent of bone mineral density. In conclusion, interaction between ERalpha and VDR gene polymorphisms leads to increased risk of osteoporotic vertebral fractures in women, largely independent of bone mineral density.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ESR1HumanSpinal Fractures susceptibilityIAGP DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human)RGD 
Esr1RatSpinal Fractures susceptibilityISORGD:736559DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human)RGD 
Esr1MouseSpinal Fractures susceptibilityISORGD:736559DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human)RGD 
VDRHumanSpinal Fractures susceptibilityIAGP DNA:mutations, haplotype:intron, exon: (human)RGD 
VdrRatSpinal Fractures susceptibilityISORGD:619561DNA:mutations, haplotype:intron, exon: (human)RGD 
VdrMouseSpinal Fractures susceptibilityISORGD:619561DNA:mutations, haplotype:intron, exon: (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
VDRHumanAbnormality of bone mineral density susceptibilityIAGP DNA:mutations, haplotype:intron, exon: RGD 
ESR1HumanAbnormality of the vertebral column susceptibilityIAGP DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>GRGD 
VDRHumanAbnormality of the vertebral column susceptibilityIAGP DNA:mutations, haplotype:intron, exon:RGD 
Objects Annotated

Genes (Rattus norvegicus)
Esr1  (estrogen receptor 1)
Vdr  (vitamin D receptor)

Genes (Mus musculus)
Esr1  (estrogen receptor 1 (alpha))
Vdr  (vitamin D (1,25-dihydroxyvitamin D3) receptor)

Genes (Homo sapiens)
ESR1  (estrogen receptor 1)
VDR  (vitamin D receptor)


Additional Information