RT info:eu-repo/semantics/article
T1 Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians
A1 Velasco Bernal, Javier
A1 Hernández, Jose L.
A1 Pérez Castrillon, José Luis
A1 Zarrabeitia Cimiano, María Teresa
A1 Alonso, María A.
A1 González Macías, Jesús
A1 Riancho Moral, José Antonio
K1 Cadera - Fracturas
AB 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 fractureswas recently reported in a Chinese population. The aim of this study was to investigate whether such association isalso present in Caucasians.Methods: We analyzed those two SNPs and another neighbour SNP located on the exon 4 of ESR1 in 787 patientswith 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 hipfractures (omnibus test p = 0.006 in the whole group and 0.00005 in women). In the sex-stratified analysis, theassociation was significant in females, but not in males. In women, the CA haplotype appeared to have aprotective influence, being present in 6.5% of the controls, but only in 3% of patients with fractures (odds ratio0.39; 95% confidence interval 0.26-0.59; estimated population preventive fraction 3.5%). The inclusion of thers1801132 SNP of exon 4 further increased the statistical significance of the association (odds ratio 0.17; 95% CI0.08-0.37; p = 0.00001). Each SNP appeared to contribute independently to the association. No genotype-relateddifferences 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 ESR1and hip fractures in women. However, there are marked differences in allele frequencies between Asian andCaucasian populations.
PB BioMed Central Ltd.
SN 1471-2350
YR 2010
FD 2010
LK http://uvadoc.uva.es/handle/10324/5868
UL http://uvadoc.uva.es/handle/10324/5868
LA eng
NO BMC Medical Genetics, 2010, vol. 11, n. 16, p. 1-7
NO Producción Científica
DS UVaDOC
RD 23-nov-2024