Advances on genome-wide association study in diagnosis and treatment of osteoporosis

Osteoporosis is a complex disease caused by genetic and environmental factors, which the genetic architecture is not completely understood. Genome-wide association study (GWAS) have reformed the identification of genetic determinants of complex diseases including osteoporosis. In the past decade, more than 30 GWASes which were related to bone mass density identified nearly 100 independent loci. The bivariate GWAS approach is an effective approach to detect pleiotropic genes for two osteoporosis traits. However, genetic analyses must be combined with functional studies to understand the underlying mechanisms. The insight of bone metabolism by GWAS is of huge potential for the identification of novel drug targets for osteoporosis. (Chin J Lab Med, 2017, 40: 848-851) Key words: Osteoporosis; Genome-wide association study; Bone mineral density; Diagnosis