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

Lookup NU author(s): Satya Varanasi, Emeritus Professor Roger Francis, Dr Harish Datta


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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-α (ER-α) gene in 64 men (36 patients with symptomatic vertebral crush fractures and 28 control subjects). Initial screening of the ER-α 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-α 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-α genotypes and bone mineral density or arthropometric parameters. This relatively small study suggests that mutations in the ER-α gene are unlikely to be a common cause of osteoporosis in men with vertebral fractures. Furthermore, polymorphic variation of the ER-α gene appears to have little effect on the pathogenesis of osteoporosis in men.

Publication metadata

Author(s): Varanasi SS; Francis RM; Datta HK; Allcroft LC; Dimopoulos D

Publication type: Article

Publication status: Published

Journal: Calcified Tissue International

Year: 2002

Volume: 71

Issue: 5

Pages: 400-405

ISSN (print): 0171-967X

ISSN (electronic): 1432-0827

Publisher: Springer


DOI: 10.1007/s00223-001-2040-8

PubMed id: 12183765


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