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.</...

ba0001pp278 | Genetics | ECTS2013

Gene-wide association study of RANK and RANKL genes in the bone context: functional study of BMD-associated SNPs

Garcia-Giralt Natalia , Yoskovitz Guy , Rodriguez-Sanz Maria , Urreizti Roser , Guerri Roberto , Arino-Ballester Sergi , Prieto-Alhambra Daniel , Mellibovsky Leonardo , Grinberg Daniel , Nogues Xavier , Balcells Susana , Diez-Perez Adolfo

Over the past decade, many GWAs and meta-analyses were performed to identify genes and regions involved in bone metabolism and in the osteoporotic phenotypes. Nevertheless, the majority of these GWAS results were not tested at any functional level. This study aims to find and study functional regions in the RANK and RANKL genes that encode well-established proteins in the bone remodeling equilibrium. SNPs, chosen for their location in an evolutionary conserve...

ba0006p014 | (1) | ICCBH2017

Longitudinal changes in bone mineral content and bone stiffness in adolescent male athletes: The PRO-BONE study

Vlachopoulos Dimitris , Barker Alan R , Williams Craig A , Ubago-Guisado Esther , Ortega Francisco B , Ruiz Jonathan R , Moreno Luis A , Fatouros Ioannis G , Avloniti Alexandra , Gracia-Marco Luis Vlachopoulos Dimitris , Barker Alan R , Williams Craig A , Ubago-Guisado Esther , Ramirez-Velez Robinson , Garcia-Hermoso Antonio , Pinero Jose Castro , Ortega Francisco B , Ruiz Jonatan R , Moreno Luis A , Gracia-Marco Luis

Objectives: Bone development can be enhanced by exercise during growth, but not all types of exercise may be beneficial. Weight bearing and non-weight bearing sports have different effects on bone outcomes during adolescence. However, there is no longitudinal evidence comparing the effects of popular sports in the UK on bone acquisition in adolescent males.Methods: In the present study 116 adolescent males (13.1±0.1 years: 37 footballers, 37 swimmer...

ba0001oc3.5 | Osteoporosis pathophysiology and genetics | ECTS2013

Genome-wide association identifies a new susceptibility locus at 4q35 associated with clinical vertebral fractures in post-menopausal women: the GEFOS-GENOMOS consortium

Alonso N , Estrada K , Herrera L , Kabir D , Olmos J M , Sanudo C , Riancho J A , Oei L , Medina-Gomez M C , Stenkjaer L , Bjerre L , Langdahl B , Brown M A , Duncan E L , Sims M , Kaptoge S , Reeve J , Lewis J , Prince R , Reppe S , Olstad O K , Gautvik K M , Garcia-Giralt N , Nogues X , Mencej-Bedrac S , Marc J , del Pino J , Gonzalez-Sarmiento R , Wolstein O , Eisman J , Feenstra B , Melbye M , Albagha O M E , WTCCC , Davies G , Starr J , Deary I , Quintela I , Fernandez C , Carracedo A , Lucas G , Elosua R , Uitterlinden A G , Rivadeneira F , Ralston S H

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

ba0004p13 | (1) | ICCBH2015

Galactosyltransferase-1 deficiency: a novel cause of bone fragility due to impaired proteoglycan synthesis

Moon Rebecca , Salter Claire , Foulds Nicola , Davies Justin

Proteoglycans is a component of extracellular matrix, forming a mesh around structural proteins including collagen and elastin, and providing elasticity to tissue structure. Proteoglycans is formed by the attachment of glycosaminoglycans to a core protein, a process that requires three enzymes: galactosyltransferase-1, galactosyltransferase-2 and glucoronosyltransferase-1, encoded by B4GALT7, B3GALT6 and B3GAT3 respectively. B3GALT6 mutation...

ba0006p152 | (1) | ICCBH2017

Seasonal variation in internet searches for vitamin D

Moon Rebecca , Curtis Elizabeth , Davies Justin , Cooper Cyrus , Harvey Nicholas

Objective: Over the last decade, there has been increasing scientific interest in vitamin D, and it is now advised that all pregnant women and infants should receive vitamin D supplementation. Despite of this, it is recognized that knowledge of vitamin D in the general public is limited. The internet is now an important source of health care information and analysis of internet search activity rates can provide information on disease epidemiology, health related behaviors and ...

ba0007p167 | (1) | ICCBH2019

Children's multivitamins do not contain sufficient vitamin D

Moon Rebecca , Curtis Elizabeth , Cooper Cyrus , Davies Justin , Harvey Nicholas

Objective: Public Health England recommends that children in the United Kingdom (UK) aged over 1 year should take a vitamin D supplement containing 400 IU/day. Commercially available children’s multivitamin and vitamin D supplements were surveyed to determine the vitamin D content.Methods: Multivitamins and vitamin D supplements marketed at children <12 years and sold by nine UK supermarkets and health supplement retailers were surveyed. The vit...

ba0007p198 | (1) | ICCBH2019

The multidisciplinary team (MDT) approach: What does it look like and why does it matter? An illustration of a true MDT approach to provide holistic care for a child with severe and complex osteogenesis imperfecta

Jones Rebecca , Seasman Alison , Marr Caroline , Bone Team Metabolic

Background: Addressing the needs of a child with Severe, Complex or Atypical Osteogenesis Imperfecta (SCAOI) requires a full MDT approach to enable the child to access their environment and meet their true potential. MDT input is essential in ensuring the delivery of medicine, participation in meaningful activity and supporting of the functioning of the child and family in complex systems.Presenting problem: Osteogenesis Imperfecta (OI) impacts upon all ...

ba0001pp32 | Bone biomechanics and quality | ECTS2013

Vitamin D levels of >85 nmol/l in the presence of adequate dietary Ca minimise bone turnover and improve bone strength

O'Loughlin Peter , Lee Alice , Anderson Paul , Steck Roland , Forwood Mark , Sawyer Rebecca , Morris Howard

We have reported femoral osteopenia in short term-vitamin D restricted rats without deterioration in tibial cortical bone volume (CBV), geometry or strength1. This study aimed to establish the effect of extended vitamin D deficiency in aged rat tibial volume and strength. Female Sprague-Dawley rats (9 m, n=6/group) were fed a diet containing varying vitamin D3 (D) levels (0, 2, 12, and 20 IU/day) with either low (0.1%, LCa) or high (1%, HCa) diet...