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<dc:creator>Riancho, Javier</dc:creator>
<dc:creator>García Ibarbia, Carmen</dc:creator>
<dc:creator>Pérez Núñez, María A.</dc:creator>
<dc:creator>Alonso, María A.</dc:creator>
<dc:creator>Díaz, Teresa</dc:creator>
<dc:creator>Pérez Castrillon, José Luis</dc:creator>
<dc:creator>Riancho Moral, José Antonio</dc:creator>
<dc:date>2011</dc:date>
<dc:description>Producción Científica</dc:description>
<dc:description>Purpose. Epidemiological studies suggest that cervical and trochanteric hip fractures have&#xd;
different pathogenesis. We planned to test the hypothesis that genetic factors have different&#xd;
influences on both types of fractures.&#xd;
Methods. Ten polymorphisms of genes known to play an important role in skeletal homeostasis&#xd;
(estrogen receptor alpha [ESR1], aromatase [CYP19A1], type I collagen [COL1A1], and&#xd;
lipoprotein receptor-related protein 5 [LRP5]) were analyzed in 471 Spanish patients with&#xd;
fragility hip fractures.&#xd;
Results. Two polymorphisms of the LRP5 gene (rs7116604 and rs3781600) were associated&#xd;
with the type of fracture (p-value 0.0085 and 0.0047, respectively). The presence of rare alleles&#xd;
at each locus was associated with trochanteric fractures over cervical fractures (OR 1.7 in&#xd;
individuals with at least one rare allele at rs7116604 or rs3781600 loci, in comparison with the&#xd;
common homozygotes). Considering individuals bearing the four common alleles as reference,&#xd;
the OR for trochanteric fractures was 1.6 in those with 1 or 2 rare alleles, and 7.5 in those with 3&#xd;
or 4 rare alleles (p-value for trend 0.0074), which is consistent with an allele-dosage effect.&#xd;
There were no significant differences in the frequency distributions of the ESR1, CYP19A1 and&#xd;
COL1A1 genotypes between trochanteric and cervical fractures in either the original group or in&#xd;
an extended group of 818 patients.&#xd;
Conclusions. These results suggest LRP5 alleles influence the type of hip fractures. They&#xd;
support the view that different genetic factors are involved in cervical and trochanteric fractures,&#xd;
which should be taken into consideration in future genetic association studies.</dc:description>
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<dc:identifier>http://uvadoc.uva.es/handle/10324/5834</dc:identifier>
<dc:language>eng</dc:language>
<dc:publisher>Springer</dc:publisher>
<dc:subject>Cadera - Fracturas - Aspecto Genetico</dc:subject>
<dc:title>Genetic polymorphisms of the wint receptor LRP5 are differentially associated with trochanteric and cervical hip fractures</dc:title>
<dc:type>info:eu-repo/semantics/article</dc:type>
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