Mutational and Polymorphic Analysis of the Estradiol Receptor-a Gene in Men with Symptomatic Vertebral Fractures
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- Allcroft, L., Varanasi, S., Dimopoulos, D. et al. Calcif Tissue Int (2002) 71: 400. doi:10.1007/s00223-001-2040-8
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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-a (ER-a) gene in 64 men (36 patients with symptomatic vertebral crush fractures and 28 control subjects). Initial screening of the ER-a 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-a 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-a genotypes and bone mineral density or arthropometric parameters. This relatively small study suggests that mutations in the ER-a gene are unlikely to be a common cause of osteoporosis in men with vertebral fractures. Furthermore, polymorphic variation of the ER-a gene appears to have little effect on the pathogenesis of osteoporosis in men.