Searchable abstracts of presentations at key conferences on calcified tissues

ba0003oc5.5 | Important pathways in bone biology and cancer | ECTS2014

Rs55710688 in the Kozak sequence of WNT16 increases translation efficiency and is associated with osteoporosis related parameters

Hendrickx Gretl , Boudin Eveline , Fijalkowski Igor , Nielsen Torben Leo , Andersen Marianne , Brixen Kim , Van Hul Wim

Recent studies confirmed the role of WNT16 in bone mineral density (BMD), bone strength and fracture risk. These findings made WNT16 interesting for further genetic and functional studies to clarify its effect on osteoporosis related parameters.A WNT16 candidate gene association study was performed in men from the Odense Androgen Study (OAS). Five tagSNPs and one multimarker test were selected for genotyping to cover most of th...

ba0005p247 | Genetics and Epigenetics | ECTS2016

Common variants in Rspo 1,2 and 3 do not associate with BMD in stratified subpopulations of the Odense Androgen Study and mutations in these genes are not a common cause of craniotubular hyperostosis

Fijalkowski Igor , Hendrickx Gretl , Boudin Eveline , Szilagyi Ingrid , Nielsen Torben , Andersen Marianne , Brixen Kim , Van Hul Wim

The R-spondins are a family of four small, secreted agonists of the Wnt signaling pathway. Growing evidence from both in vitro studies and in vivo models supports the major role of these proteins in the skeletal development processes. In humans, common genetic variation in the RSPO3 gene has been associated with BMD in large scale GWAS study.This study aimed at further investigation of the genetic and functional contributions of the R-s...