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Osteoporosis is a bone disorder which causes bones to become porous and weak, resulting in a higher risk of a fragility fracture. This asymptomatic disorder affects millions of people worldwide from different ethnic backgrounds. Fractures of the wrist, hip and vertebrae are the most common, with some requiring long term management and therapy, particularly in the elderly population. Diagnosis of osteoporosis is achieved using a bone mineral density test which is most commonly performed at the hip and lumbar spine. Several environmental and genetic factors increase the risk of osteoporosis, especially for individuals with a positive family history of osteoporosis.
A team of researchers from the University of Malta, composed of Dr Melissa Marie Formosa, Ms Chanelle Cilia, Mr Donald Friggieri, Professor Josanne Vassallo and Professor Angela Xuereb-Anastasi have investigated the genetic determinants of early-onset familial osteoporosis in a two-generation Maltese family. Through the application of whole genome sequencing, three high-risk gene variants were identified, which were consequently tested in the Malta Osteoporotic Fracture Study, a case-control collection of over 1045 Maltese postmenopausal women, to assess their association with bone mass at the population level. The study also explores the predicted impact of the gene variants on resulting protein structure and function. This is the first study to link the identified gene variants with osteoporosis and low bone mass.
The findings were also presented at The American Society of Bone and Mineral Research meeting held between 1 and 4 October 2021 in San Diego, California, USA. Furthermore, a paper describing the findings has been published in Genes and can be found online .
This study forms part of the ongoing research project GeOM (Unravelling the Genetic determinant of Familial Osteoporosis in Malta; REP-2020-011) which focuses on the use of omics technologies in familial osteoporosis. Other funding and scholarships also supported the study, including a TESS scholarship (Ms Chanelle Cilia who is currently pursuing a doctoral degree), and funding from the Research, Innovation and Development Trust (RIDT) together with the Malta Community Chest Fund.
For further information about the GeOM study, kindly contact Dr Melissa Marie Formosa.
Project GeOM (REO-2020-011) was financed by the Malta Council for Science & Technology, for and on behalf of the Foundation for Science and Technology, through the Research Excellence Programme.
Journal
Genes