M Audrey Koay's research while affiliated with University of Oxford and other places

... P. Diez-G Clínica de Osteoporosis, Instituto Nacional de Rehabilitación, México, D.F., México R. Peñaloza-Espinosa Departamento de Sistemas Biológicos, UAM-X, México, D.F., México the LRP5 gene affect bone mass in both human and mouse12345. Genetic screening of the LRP5 gene locus has revealed the existence of polymorphic sites and some largescale studies have tested for an association of LRP5 polymorphisms with osteoporosis and fracture risk678910111213141516 and with normal variations of BMD17181920. These studies were consistent with an association of LRP5 gene polymorphisms with both BMD variations and osteoporosis susceptibility in several Caucasian and Asiatic populations. ...

... Ichikawa et al. found that the polymorphism of ALOX12 gene might be a protective factor for spine BMD (Ichikawa et al. 2006). Moreover, it has been discovered that common LRP5 polymorphisms influence BMD variation in the general population (Koay et al. 2004). These results suggest that some SNPs in bone regulation genes are associated with BMD. ...

... LRP5 is considered to be a vital molecule in Wnt signaling as it interacts with Wnt ligands, along with its homologous family member LRP6 and other proteins, in receptormediated endocytosis of lipoprotein and protein ligands (Joiner et al., 2013). It regulates various developmental processes in embryogenesis and maintains physiological homeostasis during maturation (Audrey Koay and Brown, 2005). Loss-of-function mutations in LRP5 were found by Gong et al. to cause an autosomal recessive disorder called osteoporosis-pseudoglioma syndrome (OPPG) 20 years ago, which is characterized by low bone mass and skeletal fragility (Gong et al., 2001). ...

... To address skeletal health evaluation in children and adolescents, the International Society of Clinical Densitometry held a Pediatric Position Development Conference in (Baim et al., 2008Bishop et al., 2008;Gordon et al., 2008;Rauch et al., 2008;Zemel et al., 2008). Although heritability estimates for bone mass, shape, and density range from 45 to 85%, currently discovered bone genetic markers explain just a small proportion of the diversity in individual bone mass (Arden et al., 1996;Arden & Spector, 1997;Koay et al., 2007;Paternoster et al., 2010). Many other variables impact bone acquisition during infancy and childhood, including sex, the timing of puberty, calcium and vitamin D intake, physical activity, and obesity. ...