Genetics of Bone and Muscle Interactions in Humans

Trajanoska K1Rivadeneira F2Kiel DP3,4,5Karasik D6,7.

Curr Osteoporos Rep. 2019 Feb 28. doi: 10.1007/s11914-019-00505-1. [Epub ahead of print]



To summarize the evidence from recent studies on the shared genetics between bone and muscle in humans.


Genome-wide association studies (GWAS) have successfully identified a multitude of loci influencing the variability of different bone or muscle parameters, with multiple loci overlapping between the traits. In addition, joint analyses of multiple correlated musculoskeletal traits (i.e., multivariate GWAS) have underscored several genes with possible pleiotropic effects on both bone and muscle including MEF2C and SREBF1. Notably, several of the proposed pleiotropic genes have been validated using human cells or animal models. It is clear that the study of pleiotropy may provide novel insights into disease pathophysiology potentially leading to the identification of new treatment strategies that simultaneously prevent or treat both osteoporosis and sarcopenia. However, the role of muscle factors (myokines) that stimulate bone metabolism, as well as osteokines that affect muscles, is in its earliest stage of understanding.


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