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ba0001op9 | Clinical | 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

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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.</...

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ePoster

ba0005p234 | Genetics and Epigenetics | ECTS2016

SNP regulation of miRNA expression and its association with osteoporosis

De-Ugarte Laura , Caro-Molina Enrique , Rodriguez-Sanz Maria , Garcia-Perez M A , Olmos J M , Sosa-Henriquez Manuel , Perez-Cano Ramon , Gomez-Alonso Carlos , Del Rio Luis , Mateo-Agudo Jesus , Navarro-Casado Laura , Gonzalez-Macias Jesus , Del Pino-Montes Javier , Munoz-Torres Manuel , Diaz-Curiel Manuel , Malouf Jorge , Perez-Catrillon J L , Nogues Xavier , Garcia-Giralt Natalia , Diez-Perez Adolfo

Biogenesis and function of microRNAs can be influenced by genetic variants in the pri-miRNA sequences leading to phenotype variability. The aim of this study was to identify osteoporosis-related SNPs by affecting the expression levels of mature microRNAs.The first approach was to perform an association analysis of putative functional SNPs located in pri-miRNA sequences of bone-related microRNAs with the lumbar spine and femoral neck (FN) bone mineral den...

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Bone Abstracts

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

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

SNP regulation of miRNA expression and its association with osteoporosis

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