Calico Life Sciences researchers reporting in Nature Communications search for genetic contributors to a condition called diffuse idiopathic skeletal hyperostosis (DISH), which is marked by osteophyte formation between neighboring vertebrae and related vertebral fusions. Starting with a machine learning method aimed at identifying DISH-related features based on some 40,000 bone density scans for participants in the UK Biobank's imaging cohort, the team saw signs of DISH in some 8 percent of women over 45 years old and roughly 20 percent of men in that age group. By bringing in genetic profiles for these UK Biobank participants, the authors narrowed in on a handful of loci in and around several bone remodeling genes, along with genetic and phenotypic ties to overall increases in bone mineral density. "Overall, this study describes genetics of DISH and implicates the role of overactive osteogenesis as a key driver of the pathology," they report.
Diffuse Idiopathic Skeletal Hyperostosis Prevalence, Genetic Contributors Found With UK Biobank Data
May 09, 2023