Genetics of Bone and Muscle Interactions in Humans

Katerina Trajanoska, Fernando Rivadeneira, Douglas P. Kiel, David Karasik

Research output: Contribution to journalReview articlepeer-review

28 Scopus citations


Purpose of Review: To summarize the evidence from recent studies on the shared genetics between bone and muscle in humans. Recent Findings: 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. Summary: 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.

Original languageEnglish
Pages (from-to)86-95
Number of pages10
JournalCurrent Osteoporosis Reports
Issue number2
StatePublished - 15 Apr 2019

Bibliographical note

Funding Information:
Conflict of Interest Douglas Kiel reports personal fees from Wolters Kluwer for royalties on publication, personal fees from Springer as a book editor, grants from Policy Analysis Inc. (investigator initiated grant to institution on imminent risk of fracture in the Framingham Study), and grants from Dairy Council (Grant to institution on dairy foods and bone health) outside the submitted work.

Publisher Copyright:
© 2019, The Author(s).


  • Bone
  • Genome-wide association study (GWAS)
  • Muscle
  • Osteoporosis
  • Pleiotropy
  • Sarcopenia


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