Bone Abstracts

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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...

Objective: With recent genome wide association studies (GWAS), ~70 loci have been robustly and reproducibly associated with adult bone density and/or osteoporosis. However, to date no systematic effort has investigated which of these loci operate early in life. We investigated whether these single nucleotide polymorphisms (SNPs) are associated with childhood areal bone mineral density (aBMD). In addition we determined if any of the associations were age dependent.<p class=...

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...

Estrogens are important regulators of bone mass and exert their physiological effects on bone mainly via estrogen receptor α (ERα). Central ERα has been reported to exert an inhibitory role on bone mass. ERα is widely distributed in the brain with a high expression in the arcuate nucleus (ARC) and the ventral medial nucleus (VMN) in the hypothalamus. Here, we tested the hypothesis that ERα in hypothalamic pro-opiomelanocortin (POMC) neurons, located in...

Objectives: Single nucleotide polymorphisms (SNP) in genes related to vitamin D metabolism have been associated with 25-hydroxyvitamin D (25(OH)D) status, but these relationships have not been examined in pregnancy or following antenatal vitamin D supplementation. We assessed whether SNPs in DHCR7 (7-dehydrocholesterol reductase), CYP2R1 (25-hydroxylase), CYP24A1 (24-hydroxylase) and GC (Vitamin D binding protein) were associated with the re...

Turn your challenges into opportunities through EU funding for research and innovation.The European Union encompasses several funding mechanisms to support research and innovation (R&I). One of its main instruments is Seventh Framework programme (FP7), established for the period 2007–2013, which is now approaching its end.The successor EU instrument, called Horizon 2020 (H2020), is currently under ...

Biographical DetailsEric HesseEric Hesse studied Medicine at Hannover Medical School in Germany where he became MD in 2003. He was trained in Orthopedic Surgery and graduated as PhD in 2007 in Genetics & Cell Biology in Hannover, Germany. In 2005, he moved as a Postdoctoral Fellow funded by the German Research Foundation to the laboratory of Dr ...

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...

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...