RGD Reference Report - Mutational and polymorphic analysis of the estradiol receptor-alpha gene in men with symptomatic vertebral fractures. - Rat Genome Database

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Mutational and polymorphic analysis of the estradiol receptor-alpha gene in men with symptomatic vertebral fractures.

Authors: Allcroft, LC  Varanasi, SS  Dimopoulos, D  Francis, RM  Datta, HK 
Citation: Allcroft LC, etal., Calcif Tissue Int. 2002 Nov;71(5):400-5. Epub 2002 Aug 19.
RGD ID: 10045833
Pubmed: PMID:12183765   (View Abstract at PubMed)
DOI: DOI:10.1007/s00223-001-2040-8   (Journal Full-text)

In view of the importance of estrogens in the maintenance of the skeleton in men, we have carried out mutational analysis of all the exons of the estrogen-receptor-alpha (ER-alpha) gene in 64 men (36 patients with symptomatic vertebral crush fractures and 28 control subjects). Initial screening of the ER-alpha gene, carried out by single-strand conformation polymorphism analysis followed by sequencing, showed conservative mutations in exon 4 which resulted in a single base substitutions producing GGG-->GGC transition in codon 274. We also carried out polymorphic analysis of the ER-alpha gene at the PvuII restriction site in 82 men with a range of bone density measurements (53 with symptomatic vertebral fractures and 29 controls). The frequencies of PP, Pp, and pp genotypes were 20.7%, 48.8%, and 30.5%, respectively. The distribution of the alleles was similar in the patients with symptomatic vertebral crush fractures and male control subjects. There was no association between ER-alpha genotypes and bone mineral density or arthropometric parameters. This relatively small study suggests that mutations in the ER-alpha gene are unlikely to be a common cause of osteoporosis in men with vertebral fractures. Furthermore, polymorphic variation of the ER-alpha gene appears to have little effect on the pathogenesis of osteoporosis in men.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ESR1HumanSpinal Fractures no_associationIAGP DNA:mutation, SNP:intron, exon: , 274G>C (human)RGD 
Esr1RatSpinal Fractures no_associationISORGD:736559DNA:mutation, SNP:intron, exon: , 274G>C (human)RGD 
Esr1MouseSpinal Fractures no_associationISORGD:736559DNA:mutation, SNP:intron, exon: , 274G>C (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ESR1HumanAbnormality of the vertebral column no_associationIAGP DNA:mutation, SNP:intron, exon: , 274G>CRGD 
Objects Annotated

Genes (Rattus norvegicus)
Esr1  (estrogen receptor 1)

Genes (Mus musculus)
Esr1  (estrogen receptor 1 (alpha))

Genes (Homo sapiens)
ESR1  (estrogen receptor 1)


Additional Information