Searchable abstracts of presentations at key conferences on calcified tissues

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...