Oral Presentation ESA-SRB-ANZBMS 2021

Using Statistical Genetics Methods in Large Cohorts to Identify Modifiable Risk Factors for Osteoporosis. (#206)

John Kemp 1
  1. The University of Queensland, St Lucia, QLD, Australia

Genomics is undergoing a dramatic evolution due to rapid advances in statistical genetics methods, the development of new high-throughput sequencing technologies, and the establishment of large population-based biobank studies. New statistical methodologies are allowing us to quantify the degree to which genome-wide arrays tag heritable variation of skeletal disease traits, and identify which regions of the genome (i.e., loci) are most likely to be implicated. Genetic loci discovered using genome-wide association studies are finding a novel use in a technique called Mendelian Randomization, in which genetic variants are used to inform causality in observational epidemiological studies. Moreover, information from genome-wide association studies can also be integrated with single cell transcriptomics analyses to reveal new skeletal disease genes, candidate drug targets, and generate hypotheses regarding the cellular context through which they may function. In this talk I describe many of these new advances in genomics in reference to my team’s work on the genetics of bone mineral density and osteoporosis and illustrate how some of these techniques can be used profitably by epidemiologists and molecular biologists.