Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp277 | Genetics | ECTS2013

A genomic and transcriptomic approach to the high bone mass phenotype: evidences of heterogeneity and of additive effects of TWIST1, IL6R, DLX3, and PPARG

Sarrion Patricia , Mellibovsky Leonardo , Urreizti Roser , Civit Sergi , Cols Neus , Garcia-Giralt Natalia , Yoskovitz Guy , Aranguren Alvaro , Malouf Jorge , del Rio Luis , Guerri Roberto , Nogues Xavier , Diez-Perez Adolfo , Grinberg Daniel , Balcells Susana

The aims of this study were to establish the prevalence of the high bone mass (HBM) phenotype in a cohort of Spanish postmenapausal women (BARCOS); to determine whether any of the HBM cases carry LRP5 or DKK1 mutations; to test the hypothesis of an inverse correlation between the number of common variant risk alleles and HBM; and to characterize the expression of osteoblast-specific and Wnt pathway genes in primary osteoblast RNA samples from two HBM cases.</...