Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p294 | Osteoporosis: evaluation and imaging | ECTS2016

Establishing an LRP5 mutant zebrafish (D. Rerio) model of bone acquisition

Shochat Chen , Harari Ram , Karasik David

Aim & background: Evidence from genetic studies of osteoporosis and fracture risk indicate that bone mineral density (BMD) is genetically controlled. The low-density-lipoprotein-related receptor 5 (lrp5) gene is a known co-receptor in the canonical Wnt bone formation regulatory pathway. Although mutations found in this gene have been shown to regulate BMD in humans, and Lrp5 knockout mice had reduced bone mass, its role in the bone development/bone acquis...

ba0005p64 | Bone development/growth and fracture repair | ECTS2016

A novel model for examining chondral bone regenerative potential in adult zebrafish

Govezensky Yael , David Dalia , Ben-Yosef Dafna , Shochat Chen , Karasik David

Purpose: The aim of this research was to develop an in vivo platform for conveniently examining the potential of various factors to augment chondral bone regeneration. For this purpose, we have established a de novo partial tail amputation model in adult zebrafish, which includes the resection of cartilage-template based bones from the endoskeletal caudal complex. Endoskeletal amputations were rarely studied, as opposed to those of the distal caudal fin rays, a well-e...

ba0002oc7 | Biology | ICCBH2013

The PPP6R3/LRP5 locus influences lean mass in children of different ethnic background and highlights pleiotropic effects and muscle–bone interactions

Medina-Gomez Carolina , Heppe Denise , Estrada Karol , Hofman Albert , Hsu Yi-Hsiang , Karasik David , Jaddoe Vincent , Zillikens M Carola , Uitterlinden Andre G , Rivadeneira Fernando

Aim: Lean and bone mass have considerably high phenotypic and genetic correlations with a shared heritability estimate ranging between 30 and 40% in adults. A genome-wide association study (GWAS) on total body lean mass and a bivariate GWAS on lean mass and BMD were ran in a cohort of children to identify genes with pleiotropic effects on muscle mass and peak bone mass attainment.Methods: Subjects are part of the Generation R study, a prospective multiet...

ba0001pp283 | Genetics | ECTS2013

Discovery and replication of several loci significantly associated with lean body mass: a large meta-analysis of genome wide association studies (GWAS) from the ‘charge’ and ‘gefos’ consortia

Kiel Douglas P , Yerges-Armstrong Laura M , Hsu Yi-Hsiang , Stolk Lisette , Karasik David , Loos Ruth J F , Gudnason Vilmundar , Smith Albert , O'Connell Jeffrey R , Fu Amish , Fu Mao , Streeten Elizabeth A , Cauley Jane A , Robbins John A , Psaty Bruce , Johnson Toby , Kutalik Zoltan , Mitchell Braxton D , Livshits Gregory , Harris Tamara B , Ohlsson Claes , Zillikens M Carola

Introduction: The creatine kinase (CK) is a dimeric enzyme, involved in energetical metabolism. It is present in many tissues, but higher concentration in skeletal and cardiac muscle.Therefore, conditions that involve muscle tissue may increase this serum enzyme. Such enzyme elevation is usually observed in inflammatory myopathies and others autoimmune diseases.Sometimes some elevation in CK is not fully understood out off these co...

ba0005oc2.3 | Bone mass and bone strength Wnt signalling | ECTS2016

Life-course GWAS approach for total body BMD unveils 16 new BMD loci with some exerting age-specific effects

Medina-Gomez Carolina , Kemp John , Chesi Alessandra , Kreiner-Moller Eskil , Harris Tamara , Mook Dennis , Hatwig Fernando , Joro Raimo , Nedeljkovic Ivana , Evans Dan , Mullin Benjamin , Ohlsson Claes , Styrkarsdottir Unnur , Karasik David , McGuigan Fiona , Kiel Doug , Uitterlinden Andre , Tobias Jon , Evans Dave , Rivadeneira Fernando

Introduction: Bone mineral density (BMD) is a highly heritable trait used to assess skeletal health in children and risk of osteoporosis later in life. To date >60 loci associated with bone-related traits measured at different skeletal sites have been identified. We conducted a genome-wide association study (GWAS) meta-analysis of total body (TB-)BMD in children and adults to identify genetic determinants and age-specific effects of loci on this trait.<p class="abstext...