Bone Abstracts

C5aR is a membrane-associated receptor for C5a, a potent immune mediator generated after complement activation. C5aR expressed in tumor infiltrating immune cells creates a favorable microenvironment for tumor progression. However, the expression of C5aR by cancer cells and its contribution to their malignant phenotype is poorly understood. Immunohistochemical analysis revealed that high levels of C5aR in human lung tumors were associated with poor survival (P=0.005) a...

Sclerostin, encoded by the SOST gene, functions as an inhibitor of the Wnt pathway and thus it is an important regulator of bone homeostasis. The fact that osteoblasts, the only cells expressing SOST, lay buried deeply in the bone matrix, poses intrinsic difficulties to the study of the regulation of this gene. Since RUNX2 and SP7/OSX are two known regulators of the differentiation of cells of the osteoblastic lineage, the aim of this study was to determine t...

Objectives: Advanced or delayed physiological age may influence significantly health and disease processes. Physiological age can be estimated using several parameters including dental age (DA). Previous meta-analyses studying “Number of Teeth at 15 Months” (NT15M) and “Age at First Teeth Eruption” (AFTE) have identified 15 loci. We performed a genome-wide association study (GWAS) meta-analysis to identi...

Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate level. Scientific evidence points to link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH.Patients/methods: We selected 172 XLH-children of 5–20 years (113 girls/59 boys). Anthropometric pa...

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Heritability of bone mineral density (BMD) varies at skeletal sites, possibly reflecting different relative contributions of environmental and genetic influences. To quantify shared genetic influences across different sites, we estimated the genetic correlation of BMD at the upper limb (UL), lower limb (LL), and skull (S) obtained from whole body DXA scans, using bivariate genome-wide complex trait analysis (GCTA). The study (n=9395) combined data from the Avon Longit...

Background: Lean and bone mass are heritable traits with high phenotypic correlation (rho=0.44), likely reflecting the underlying mechanical and biochemical interactions between tissues.Aim: Estimate the shared heritability (genetic correlation) of both traits in children and identify genetic determinants displaying pleiotropic effects on lean mass and bone mass accrual.Methods: Participants make part of two prospective po...

Heritability of bone mineral density (BMD) varies at skeletal sites, possibly reflecting different relative contributions of environmental and genetic influences. To quantify shared genetic influences across different sites, we estimated the genetic correlation of BMD at the upper limb (UL), lower limb (LL) and skull (S) obtained from whole body DXA scans, using bivariate genome-wide complex trait analysis (GCTA). The study (n=9395) combined data from the Avon Longitu...

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...

Objective: Evidence for further reduction of nonvertebral fracture (NVFX) beyond 3 years of antiresorptive therapy is limited. Since long-term denosumab (DMAb) treatment is associated with continuous increases in BMD and sustained fracture reduction, we analyzed the influence of femoral neck (FN) BMD after 3 years on NVFX rates.Methods: Long-term subjects received 7 continuous years of DMAb; cross-over subjects received 3 years of placebo (FREEDOM) and 4...