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COL1A1 haplotypes and hip fracture

Abstract: Fragility fractures resulting from low-trauma events such as a fall from standing height are associated with osteoporosis and are very common in older people, especially women. Three single nucleotide polymorphisms (SNPs) at the COL1A1 gene (rs1107946, rs11327935, and rs1800012) have been widely studied and previously associated with bone mineral density (BMD) and fracture. A rare haplotype (T-delT-T) of these three SNPs was found to be greatly overrepresented in fractured individuals compared with nonfractured controls, thus becoming a good candidate for predicting increased fracture risk. The aim of our study was to assess the association of this haplotype with fracture risk in Spanish individuals. We recruited two independent groups of ?100 patients with hip fracture (a total of 203 individuals) and compared the genotype and haplotype distributions of the three SNPs in the fractured patients with those of 397 control individuals from the BARCOS Spanish cohort. We found no association with risk of fracture at the genotype level for any of the SNPs, and no differences in the SNP frequencies between the two groups. At the haplotype level, we found no association between the T-delT-T haplotype and fracture. However, we observed a small but significant (p?=?0.03) association with another rare haplotype, G-insT-T, which was slightly overrepresented in the patient group. © 2012 American Society for Bone and Mineral Research.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Autoría: Urreizti R., Garcia-Giralt N., Riancho J.A., González-Macías J., Civit S., Güerri R., Yoskovitz G., Sarrion P., Mellivobsky L., Díez-Pérez A., Nogués X., Balcells S., Grinberg D.,

 Fuente: Journal of Bone and Mineral Research, 2012, 27(4), 950-953

Editorial: John Wiley & Sons

 Fecha de publicación: 01/04/2012

Nº de páginas: 4

Tipo de publicación: Artículo de Revista

 DOI: 10.1002/jbmr.1536

ISSN: 0884-0431,1523-4681

 Proyecto español: PI030708 ; PI 09/539

Url de la publicación: https://doi.org/10.1002/jbmr.1536

Autoría

URREIZTI, ROSER

GARCIA-GIRALT, NATÀLIA

CIVIT, SERGI

GÜERRI, ROBERTO

YOSKOVITZ, GUY

SARRION, PATRICIA

MELLIVOBSKY, LEONARDO

DÍEZ-PÉREZ, ADOLFO

NOGUÉS, XAVIER

BALCELLS, SUSANA

GRINBERG, DANIEL