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dc.contributor.authorVelasco, Javier
dc.contributor.authorHernández, Jose L.
dc.contributor.authorPérez Castrillón, José Luis
dc.contributor.authorZarrabeitia, Maria T.
dc.contributor.authorAlonso, María A.
dc.contributor.authorGonzález-Macías, Jesús
dc.contributor.authorRiancho, José A.
dc.date.accessioned2014-09-09T09:03:27Z
dc.date.available2014-09-09T09:03:27Z
dc.date.issued2010
dc.identifier.citationBMC Medical Genetics, 2010, vol. 11, n. 16, p. 1-7es
dc.identifier.issn1471-2350es
dc.identifier.urihttp://uvadoc.uva.es/handle/10324/5868
dc.descriptionProducción Científicaes
dc.description.abstractBackground: Despite their great impact, few genetic association studies have used hip fractures as an endpoint. However, the association of two polymorphisms on intron 4 of estrogen receptor alpha (ESR1) with hip fractures was recently reported in a Chinese population. The aim of this study was to investigate whether such association is also present in Caucasians. Methods: We analyzed those two SNPs and another neighbour SNP located on the exon 4 of ESR1 in 787 patients with hip fractures and 953 controls from Spain. Results: The allelic frequencies differed markedly from those reported in Asian populations. Nevertheless, haplotypes including the rs3020314 and rs1884051 loci in intron 4 showed a significant association with hip fractures (omnibus test p = 0.006 in the whole group and 0.00005 in women). In the sex-stratified analysis, the association was significant in females, but not in males. In women, the CA haplotype appeared to have a protective influence, being present in 6.5% of the controls, but only in 3% of patients with fractures (odds ratio 0.39; 95% confidence interval 0.26-0.59; estimated population preventive fraction 3.5%). The inclusion of the rs1801132 SNP of exon 4 further increased the statistical significance of the association (odds ratio 0.17; 95% CI 0.08-0.37; p = 0.00001). Each SNP appeared to contribute independently to the association. No genotype-related differences in gene expression were found in 42 femoral bone samples. Conclusions: This study confirms the association of some polymorphisms in the region of exon 4/intron 4 of ESR1 and hip fractures in women. However, there are marked differences in allele frequencies between Asian and Caucasian populations.es
dc.format.mimetypeapplication/pdfes
dc.language.isoenges
dc.publisherBioMed Central Ltd.es
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectCadera - Fracturases
dc.titleHaplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasianses
dc.typeinfo:eu-repo/semantics/articlees
dc.identifier.doi10.1186/1471-2350-11-16es
dc.identifier.publicationfirstpage1es
dc.identifier.publicationissue16es
dc.identifier.publicationlastpage7es
dc.identifier.publicationtitleBMC Medical Geneticses
dc.identifier.publicationvolume11es
dc.peerreviewedSIes
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International


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