Osteoporosis is the most common metabolic bone disease and poses a major public health concern. One in three women and one in five men over the age of 50 suffer from osteoporosis (1). Osteoporosis is poorly understood on a molecular genetic basis. Multiple attempts to uncover genetic variants that contribute to the risk of osteoporosis have been relatively unsuccessful; Genome Wide Association Studies (GWAS) studies have been limited to the discovery of variants with an effect size too small to prompt any major investigations (2, 3). To uncover the pathogenic mechanisms responsible for osteoporosis, Simpson et al. have honed in on a monogenic disorder, Hajdu-Cheney syndrome (HCS) - a disorder having substantial phe-notypic overlap with osteoporosis - in an attempt to better understand the pathways involved in the development of osteoporotic fractures and thereby to discover potential future therapeutic targets to treat HCS and osteoporosis.
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