Searchable abstracts of presentations at key conferences on calcified tissues

Bone Abstracts

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ba0001oc3.3 | Osteoporosis pathophysiology and genetics | ECTS2013

Distinct relationships of intramuscular and subcutaneous fat with cortical bone: findings from a cross sectional study of young adult males and females

Deere Kevin , Sayers Adrian , Viljakainen Heli , Lawlor Debbie , Sattar Naveed , Kemp John , Fraser William , Tobias Jon

Introduction: Intracellular fat within muscle and visceral tissue has been suggested to adversely influence bone development.Design: We aimed to compare associations between intramuscular and subcutaneous fat and cortical bone outcomes in young adults, in cross-sectional analyses based on the Avon Longitudinal Study of Parents and Children.Method: Data were collected from a research clinic conducted at 17 years of age. Intramuscula...
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ba0003lb1 | (1) | ECTS2014

Endochrondral ossification, mesenchymal stem cell and Wnt pathway specific loci predict differential skeletal effects in high bone mass

Gregson Celia , Kemp John , Marshall Mhairi , Smith George Davey , Brown Matthew , Duncan Emma , Tobias Jon

Extreme high bone mass (HBM) may be monogenic (e.g. LRP5 mutations) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine how variation in established BMD loci, in different functional pathways, explains the HBM phenotype.241 unexplained HBM cases (lumbar spine(LS)1+total hip(TH) Z-scoresā‰„+4.4) were recruited from 15 UK centres, by screening...
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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

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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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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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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...
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Bone Abstracts
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