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dc.contributor.authorRiancho Moral, José Antonio 
dc.contributor.authorValero Díaz de Lamadrid, Carmen 
dc.contributor.authorNaranjo Gómez, Ángel
dc.contributor.authorMorales García, Dieter José 
dc.contributor.authorSañudo Campo, Carolina
dc.contributor.authorZarrabeitia Cimiano, María Teresa 
dc.contributor.otherUniversidad de Cantabriaes_ES
dc.date.accessioned2012-05-31T12:36:16Z
dc.date.available2012-05-31T12:36:16Z
dc.date.issued2007-02-01
dc.identifier.issn0021-972X
dc.identifier.urihttp://hdl.handle.net/10902/561
dc.description.abstractContext: Osteoporosis has a significant genetic component. The aromatase-dependent conversion of androgenic precursors is the main source of estrogens in postmenopausal women. Objective: The objective of the investigation was to study the relationship of a set of single nucleotide polymorphisms (SNPs) of the aromatase gene with osteoporosis and determine their functional influence on gene transcription. Design, Participants, and Methods: This was a case-control study including 135 women with vertebral fractures due to postmenopausal osteoporosis and 312 controls. Alleles at four SNPs situated between exons I.2 and 3 were determined by Taqman assays. Total aromatase RNA and differential allelic-specific expression were studied by RT-real time PCR in adipose tissue samples taken from 50 individuals. Results: The SNPs studied were in strong linkage disequilibrium. A common haplotype, present in about half of the population, was identified as being associated with an increased risk of fractures (odds ratio 1.8, 95% confidence interval 1.2–2.8, P = 0.006). There was evidence of differential allelic expression. In heterozygous individuals, transcripts bearing T alleles at rs700518 SNP (which were included in the risk haplotype) were less abundant than those with the alternative C alleles (P < 0.001). Total aromatase expression was four times lower in fat samples from individuals who were homozygotes for the unfavorable alleles than in the opposite homozygotes (P = 0.007). Conclusions: A common haplotype of aromatase associated with gene expression is also associated with the risk of osteoporotic vertebral fractures in postmenopausal women. These data are in line with the hypothesis that the aromatase-dependent synthesis of estrogens plays an important role in bone homeostasis in postmenopausal women.es_ES
dc.format.extent6 p.es_ES
dc.language.isoenges_ES
dc.publisherEndocrine Societyes_ES
dc.rights(c)Endocrine Society
dc.sourceJournal of Clinical Endocrinology and Metabolism 2007 Feb;92(2):660-5. Epub 2006 Nov 21.es_ES
dc.titleIdentification of an aromatase haplotype that is associated with gene expression and postmenopausal osteoporosises_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.accessRightsopenAccesses_ES
dc.type.versionpublishedVersiones_ES


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