Human Genome‐Wide Association Studies

Technological changes and newer statistical approaches have resulted in genome‐wide association studies (GWAS) with unprecedented success in identifying loci underlying common traits and diseases. Before the GWAS, the field of genetics of osteoporosis and fracture had been confined to a very large number of genome‐wide linkage and candidate gene association studies. GWAS use high‐throughput microarrays to genotype simultaneously in one or more individuals hundreds of thousands and even millions of the most common forms of genetic variation, single nucleotide polymorphisms (SNPs). The field of skeletal genetics has expanded beyond the early focus on the BMD phenotype exclusively. The largest GWAS meta‐analysis for skeletal phenotypes to date was recently reported by investigators using data from the UK Biobank Study. A recent study demonstrated how known genetic associations are successful predictors of drug mechanisms and success in clinical development. This is particularly the case in the musculoskeletal (BMD), which supports the use of genetics for drug‐target indication.