RT info:eu-repo/semantics/article
T1 Genetic polymorphisms of the wint receptor LRP5 are differentially associated with trochanteric and cervical hip fractures
A1 Riancho, Javier
A1 García Ibarbia, Carmen
A1 Pérez Núñez, María A.
A1 Alonso, María A.
A1 Díaz, Teresa
A1 Pérez Castrillon, José Luis
A1 Riancho Moral, José Antonio
K1 Cadera - Fracturas - Aspecto Genetico
AB Purpose. Epidemiological studies suggest that cervical and trochanteric hip fractures havedifferent pathogenesis. We planned to test the hypothesis that genetic factors have differentinfluences on both types of fractures.Methods. Ten polymorphisms of genes known to play an important role in skeletal homeostasis(estrogen receptor alpha [ESR1], aromatase [CYP19A1], type I collagen [COL1A1], andlipoprotein receptor-related protein 5 [LRP5]) were analyzed in 471 Spanish patients withfragility hip fractures.Results. Two polymorphisms of the LRP5 gene (rs7116604 and rs3781600) were associatedwith the type of fracture (p-value 0.0085 and 0.0047, respectively). The presence of rare allelesat each locus was associated with trochanteric fractures over cervical fractures (OR 1.7 inindividuals with at least one rare allele at rs7116604 or rs3781600 loci, in comparison with thecommon homozygotes). Considering individuals bearing the four common alleles as reference,the OR for trochanteric fractures was 1.6 in those with 1 or 2 rare alleles, and 7.5 in those with 3or 4 rare alleles (p-value for trend 0.0074), which is consistent with an allele-dosage effect.There were no significant differences in the frequency distributions of the ESR1, CYP19A1 andCOL1A1 genotypes between trochanteric and cervical fractures in either the original group or inan extended group of 818 patients.Conclusions. These results suggest LRP5 alleles influence the type of hip fractures. Theysupport the view that different genetic factors are involved in cervical and trochanteric fractures,which should be taken into consideration in future genetic association studies.
PB Springer
SN 0171-967X
YR 2011
FD 2011
LK http://uvadoc.uva.es/handle/10324/5834
UL http://uvadoc.uva.es/handle/10324/5834
LA eng
NO Calcified Tissue International, 2011,  p. 1-25
NO Producción Científica
DS UVaDOC
RD 25-abr-2024