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ba0003pp259 | Osteoporosis: pathophysiology and epidemiology | ECTS2014

High sclerostin levels in primary biliray cirrhosis: relationship with cholestasis and bone remodelling

Ruiz-Gaspa Silvia , Gifre Laia , Pares Albert , Miquel Rosa , Peris Pilar , Monegal Ana , Dubreuil Marta , Arias Ana , Guanabens Nuria

Background and aims: Low bone formation is the main pathogenic mechanism of osteoporosis in primary biliary cirrhosis (PBC). Sclerostin, an inhibitor of the Wnt pathway, is involved in the regulation of osteoblastogenesis and little is known about its role in the development of bone disease in PBC. Thus, we evaluated the circulating levels of sclerostin and its relationship to bone mass, the parameters of mineral metabolism and liver disease severity.Met...
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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...
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ba0005p372 | Osteoporosis: pathophysiology and epidemiology | ECTS2016

Sex hormone-binding globulin is associated with markers of vertebral fracture and vertebral fracture risk

Koromani Fjorda , Muka Taulant , Oei Ling , Zillikens Carola , Hofman Albert , Uitterlinden Andre G , Oei Edwin , Hans Didier , Franco Oscar H , Rivadeneira Fernando

Background: The relation between sex hormone-binding globulin (SHBG) and vertebral fracture (VFx) is unclear.Aim: To examine whether SHBG is associated with bone mineral density at lumbar spine (LS-BMD), trabecular bone score (TBS) and prevalent VFx.Methods: Data of 6224 men and women participants in the third visit of the first cohort (I-3) and the first visit of the second cohort (II-1) of a prospective population based cohort, w...
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ba0005p373 | Osteoporosis: pathophysiology and epidemiology | ECTS2016

The association between diabetes, trabecular bone score, bone mineral density and vertebral fractures

Koromani Fjorda , Muka Taulant , Oei Ling , Zillikens Carola , Hofman Albert , Franco Oscar H , Uitterlinden Andre G , Oei Edwin , Hans Didier , Rivadeneira Fernando

Background: Fracture risk is increased in Type 2 diabetes (T2D) individuals. Bone mineral density (BMD) is inversely associated with fracture risk but paradoxically high in T2D individuals. Trabecular bone score (TBS) reflects bone microarchitecture and predicts fracture risk.Objective: We aimed to compare mean lumbar spine TBS (LS-TBS) and lumbar spine BMD (LS-BMD) values, across individuals with and without i) vertebral fracture (VFx), ii) T2D; and iii...
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ba0003s1.1 | Main Symposium | ECTS2014

Periosteocytic osteolysis in preclinical models

Zallone Alberta

Abstract unavailable....
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ba0001ni7 | (1) | ECTS2013

Phenotypic dissection of bone mineral density facilitates the identification of skeletal site specificity on the genetic regulation of bone

Kemp John P , Medina-Gomez Carolina , Estrada Karol , Heppe Denise , Zillikens Carola , Timpson Nicholas , Pourcain Beate , Ring Susan , Hofman Albert , Jaddoe Vincent V W , Smith George Davey , Uitterlinden Andre G , Tobias Jonathan H , Rivadeneira Fernando , Evans David M

see PP282....
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ba0001pp282 | Genetics | ECTS2013

Phenotypic dissection of bone mineral density facilitates the identification of skeletal site specificity on the genetic regulation of bone

Kemp John P , Medina-Gomez Carolina , Estrada Karol , Heppe Denise , Zillikens Carola , Timpson Nicholas , Pourcain Beate , Ring Susan , Hofman Albert , Jaddoe Vincent V W , Smith George Davey , Uitterlinden Andre G , Tobias Jonathan H , Rivadeneira Fernando , Evans David M

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...
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ba0004oc5 | (1) | ICCBH2015

Bivariate analyses of BMD and lean mass in children identifies variants with novel pleiotropic effects across six BMD loci and in the TOM1L2 locus

Medina-Gomez Carolina , Kemp John P , Heppe Denise H M , Tobias Jon H , Hofman Albert , Carola Zillikens M , Uitterlinden Andre G , Jaddoe Vincent W V , Evans David M , Rivadeneira Fernando

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...
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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...
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ba0002oc10 | Biology | ICCBH2013

Phenotypic dissection of bone mineral density facilitates the identification of skeletal site specificity on the genetic regulation of bone

Kemp John P , Medina-Gomez Carolina , Estrada Karol , Heppe Denise H M , Zillikens Carola M , Timpson Nicholas J , St Pourcain Beate , Ring Susan M , Hofman Albert , Jaddoe Vincent W V , Smith George Davey , Uitterlinden Andre G , Tobias Jonathan H , Rivadeneira Fernando , Evans David M

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...
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Bone Abstracts
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