Abstract Search

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-scores≥+4.4) were recruited from 15 UK centres, by screening...

0 shares

ba0001ni2 | (1) | ECTS2013

A GWAS in an extreme high bone mass population shows excess signal from genes associated with BMD in the normal population

Gregson Celia L , Leo Leo Paul J , Clark Graeme R , Smith George Davey , Brown Matthew A , Tobias Jon H , Duncan Duncan Emma L

see PP31....

0 shares

ba0001pp31 | Bone biomechanics and quality | ECTS2013

A GWAS in an extreme high bone mass population shows excess signal from genes associated with BMD in the normal population

Gregson Celia L , Leo Leo Paul J , Clark Graeme R , Smith George Davey , Brown Matthew A , Tobias Jon H , Duncan Duncan Emma L

Extreme high bone mass (HBM) may be monogenic (e.g. due to mutations in SOST or LRP5) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine the genetic cause underlying HBM in an extreme HBM population.258 unexplained HBM cases (defined as L1 Z-score ≥+3.2 plus total hip Z-score ≥+1.2, or total hip Z-score ≥+3.2 and L1 <...

0 shares

ePoster Contact

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....

0 shares

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...

0 shares

ePoster

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...

0 shares

Bone Abstracts

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

A GWAS in an extreme high bone mass population shows excess signal from genes associated with BMD in the normal population

A GWAS in an extreme high bone mass population shows excess signal from genes associated with BMD in the normal population

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

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

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

BiosciAbstracts