Searchable abstracts of presentations at key conferences on calcified tissues

ba0003pp194 | Genetics | ECTS2014

Analysis of genetic polymorphisms in relation to bone mineral density and fracture risk in maltese postmenopausal women

Formosa Melissa , Anastasi Angela Xuereb

Background: Osteoporosis is a hereditary multifactorial disease characterised by low bone mass leading to an increased susceptibility to fracture. Bone mineral density (BMD) is the most widely used predictor of fracture risk. Gene variants have been found associated with a low BMD and increased fracture risk; nonetheless studies have identified the relationship between susceptibility genes and fractures independent of BMD.Objective: Eight single nucleoti...

ba0005p240 | Genetics and Epigenetics | ECTS2016

Analysis of the polyalanine repeat polymorphism in the RUNX2 gene in relation to bone mineral density and fracture risk in Maltese postmenopausal women

Formosa Melissa M , Sladden Andre J , Scerri Daniel , Xuereb-Anastasi Angela

Introduction: Runt-related transcription factor 2 (RUNX2) is a major transcription factor essential for the regulation of osteoblast and chondrocyte differentiation, hence affecting skeletogenesis, bone and cartilage formation. The RUNX2 protein has unique consecutive polyglutamine and polyalanine repeats (Q/A) which are important for its transactivation function. Several variants within the RUNX2 gene have been implicated in osteoporosis and fracture susceptibility.<...