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Título: Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians
Autor: Velasco, Javier
Hernández, Jose L.
Pérez Castrillón, José Luis
Zarrabeitia, Maria T.
Alonso, María A.
González-Macías, Jesús
Riancho, José A.
Año del Documento: 2010
Editorial: BioMed Central Ltd.
Descripción: Producción Científica
Documento Fuente: BMC Medical Genetics, 2010, vol. 11, n. 16, p. 1-7
Resumen: Background: 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.
Materias (normalizadas): Cadera - Fracturas
ISSN: 1471-2350
Revisión por Pares: SI
DOI: 10.1186/1471-2350-11-16
Idioma: eng
Derechos: info:eu-repo/semantics/openAccess
Aparece en las colecciones:DEP52 - Artículos de revista

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