Clinical impact of recent genetic discoveries in osteoporosis

Abstract

Braxton D Mitchell, Elizabeth A StreetenDepartment of Medicine and Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, and Geriatric Research and Education Clinical Center, Veterans Administration Medical Center, Baltimore, MD, USAAbstract: Osteoporotic fracture carries an enormous public health burden in terms of mortality and morbidity. Current approaches to identify individuals at high risk for fracture are based on assessment of bone mineral density and presence of other osteoporosis risk factors. Bone mineral density and susceptibility to osteoporotic fractures are highly heritable, and over 60 loci have been robustly associated with one or both traits through genome-wide association studies carried out over the past 7 years. In this review, we discuss opportunities and challenges for incorporating these genetic discoveries into strategies to prevent osteoporotic fracture and translating new insights obtained from these discoveries into development of new therapeutic targets.Keywords: bone mineral density, genome-wide association studies, osteoporosis, prediction, fracture, genetics