|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.
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
|Materias (normalizadas): ||Cadera - Fracturas|
|Revisión por Pares: ||SI|
|Aparece en las colecciones:||DEP52 - Artículos de revista|