Article
Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 2011
Agueda Lídia, Velázquez-Cruz Rafael, Urreizti Roser, Yoskovitz Guy, Sarrión Patricia, Jurado Susana, Güerri Roberto, Garcia-Giralt Natàlia, Nogués Xavier, Mellibovsky Leonardo, Díez-Pérez Adolfo, Marie Pierre J, Balcells Susana, Grinberg Daniel
Abstract excerpt
LRP5 is an osteoporosis susceptibility gene. Association analyses reveal that individual single-nucleotide polymorphisms (SNPs) determine variation in bone mineral density (BMD) among individuals as well as fracture risk. In a previous study, we identified a lumbar spine BMD-associated SNP, rs312009, located in the LRP5 5' region. A RUNX2 binding site was identified in this region by gel-shift experiments. Here...
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